Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | [View in dbSNP]

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

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

Co-located

with HGMD-PUBLIC CM086742, CM930724

Most severe consequence
Evidence status

Clinical significance

This variation has 4 synonyms - click the plus to show

This variation has 50 HGVS names - click the plus to show

Variant allele A
2:g.233772413T>A
ENST00000373409.5:c.1459T>A
ENSP00000362508.3:p.Tyr487Asn
ENST00000305139.8:c.1453T>A
ENSP00000303174.6:p.Tyr485Asn
ENST00000482026.3:c.1459T>A
ENSP00000418532.1:p.Tyr487Asn
ENST00000373424.3: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
ENST00000305208.7:c.1456T>A
ENSP00000304845.5:p.Tyr486Asn
ENST00000373450.4:c.1447T>A
ENSP00000362549.4:p.Tyr483Asn
ENST00000344644.7:c.1447T>A
ENSP00000343838.5:p.Tyr483Asn
ENST00000354728.4:c.1447T>A
ENSP00000346768.4:p.Tyr483Asn
LRG_733:g.17141T>A
LRG_733t1.1:c.1456T>A
LRG_733p1.1:p.Tyr486Asn

Variant allele G
2:g.233772413T>G
ENST00000373409.5:c.1459T>G
ENSP00000362508.3:p.Tyr487Asp
ENST00000305139.8:c.1453T>G
ENSP00000303174.6:p.Tyr485Asp
ENST00000482026.3:c.1459T>G
ENSP00000418532.1:p.Tyr487Asp
ENST00000373424.3: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
ENST00000305208.7:c.1456T>G
ENSP00000304845.5:p.Tyr486Asp
ENST00000373450.4:c.1447T>G
ENSP00000362549.4:p.Tyr483Asp
ENST00000344644.7:c.1447T>G
ENSP00000343838.5:p.Tyr483Asp
ENST00000354728.4:c.1447T>G
ENSP00000346768.4:p.Tyr483Asp
LRG_733:g.17141T>G
LRG_733t1.1:c.1456T>G
LRG_733p1.1:p.Tyr486Asp

This variation has assays on 4 chips - click the plus to show

Variation displays