This variant has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
T/A/C/G|Ancestral: T|Ambiguity code: N|MAF: < 0.01 (G)
Location

Chromosome 2:233772413 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM930724, CM086742

Most severe consequence
 
Missense variant
Evidence status

Synonyms

This variant has 4 synonyms - Show

HGVS names

This variant has 75 HGVS names - Hide

Variant allele A
2:g.233772413T>A
ENST00000305139.10:c.1453T>A
ENSP00000303174.6:p.Tyr485Asn
ENST00000373409.7:c.1459T>A
ENSP00000362508.3:p.Tyr487Asn
ENST00000482026.5:c.1459T>A
ENSP00000418532.1:p.Tyr487Asn
ENST00000373424.5:c.652T>A
ENSP00000362523.1:p.Tyr218Asn
ENST00000373426.3:c.1447T>A
ENSP00000362525.3:p.Tyr483Asn
ENST00000450233.1:c.*255T>A
ENST00000373414.3:c.1459T>A
ENSP00000362513.3:p.Tyr487Asn
ENST00000305208.9:c.1456T>A
ENSP00000304845.5:p.Tyr486Asn
ENST00000373450.4:c.1447T>A
ENSP00000362549.4:p.Tyr483Asn
ENST00000344644.9:c.1447T>A
ENSP00000343838.5:p.Tyr483Asn
ENST00000354728.4:c.1447T>A
ENSP00000346768.4:p.Tyr483Asn
LRG_733:g.17141T>A
LRG_733t1:c.1456T>A
LRG_733p1:p.Tyr486Asn

Variant allele C
2:g.233772413T>C
ENST00000305139.10:c.1453T>C
ENSP00000303174.6:p.Tyr485His
ENST00000373409.7:c.1459T>C
ENSP00000362508.3:p.Tyr487His
ENST00000482026.5:c.1459T>C
ENSP00000418532.1:p.Tyr487His
ENST00000373424.5:c.652T>C
ENSP00000362523.1:p.Tyr218His
ENST00000373426.3:c.1447T>C
ENSP00000362525.3:p.Tyr483His
ENST00000450233.1:c.*255T>C
ENST00000373414.3:c.1459T>C
ENSP00000362513.3:p.Tyr487His
ENST00000305208.9:c.1456T>C
ENSP00000304845.5:p.Tyr486His
ENST00000373450.4:c.1447T>C
ENSP00000362549.4:p.Tyr483His
ENST00000344644.9:c.1447T>C
ENSP00000343838.5:p.Tyr483His
ENST00000354728.4:c.1447T>C
ENSP00000346768.4:p.Tyr483His
LRG_733:g.17141T>C
LRG_733t1:c.1456T>C
LRG_733p1:p.Tyr486His

Variant allele G
2:g.233772413T>G
ENST00000305139.10:c.1453T>G
ENSP00000303174.6:p.Tyr485Asp
ENST00000373409.7:c.1459T>G
ENSP00000362508.3:p.Tyr487Asp
ENST00000482026.5:c.1459T>G
ENSP00000418532.1:p.Tyr487Asp
ENST00000373424.5:c.652T>G
ENSP00000362523.1:p.Tyr218Asp
ENST00000373426.3:c.1447T>G
ENSP00000362525.3:p.Tyr483Asp
ENST00000450233.1:c.*255T>G
ENST00000373414.3:c.1459T>G
ENSP00000362513.3:p.Tyr487Asp
ENST00000305208.9:c.1456T>G
ENSP00000304845.5:p.Tyr486Asp
ENST00000373450.4:c.1447T>G
ENSP00000362549.4:p.Tyr483Asp
ENST00000344644.9:c.1447T>G
ENSP00000343838.5:p.Tyr483Asp
ENST00000354728.4:c.1447T>G
ENSP00000346768.4:p.Tyr483Asp
LRG_733:g.17141T>G
LRG_733t1:c.1456T>G
LRG_733p1:p.Tyr486Asp

Genotyping chips

This variant has assays on 5 chips - Show

About this variant

This variant overlaps 60 transcripts, has 2504 sample genotypes, is associated with 1 phenotype and is mentioned in 4 citations.

Variant displays