Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
A/C/G | Ancestral: A | Ambiguity code: V
Location

Chromosome 2:233768333 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM022853

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

This variant has 6 synonyms - click the plus to show

This variant has 72 HGVS names - click the plus to show

Variant allele C
2:g.233768333A>C
ENST00000373445.1:c.1189A>C
ENSP00000362544.1:p.Asn397His
ENST00000305139.10:c.1195A>C
ENSP00000303174.6:p.Asn399His
ENST00000373409.7:c.1201A>C
ENSP00000362508.3:p.Asn401His
ENST00000482026.5:c.1201A>C
ENSP00000418532.1:p.Asn401His
ENST00000373424.5:c.394A>C
ENSP00000362523.1:p.Asn132His
ENST00000446481.6:c.394A>C
ENSP00000401541.1:p.Asn132His
ENST00000373426.3:c.1189A>C
ENSP00000362525.3:p.Asn397His
ENST00000450233.1:c.1201A>C
ENSP00000408608.1:p.Asn401His
ENST00000360418.4:c.1198A>C
ENSP00000353593.3:p.Asn400His
ENST00000609767.2:c.1201A>C
ENSP00000476805.2:p.Asn401His
ENST00000373414.3:c.1201A>C
ENSP00000362513.3:p.Asn401His
ENST00000406651.1:c.394A>C
ENSP00000386107.1:p.Asn132His
ENST00000305208.9:c.1198A>C
ENSP00000304845.5:p.Asn400His
ENST00000344644.9:c.1189A>C
ENSP00000343838.5:p.Asn397His
ENST00000373450.4:c.1189A>C
ENSP00000362549.4:p.Asn397His
ENST00000354728.4:c.1189A>C
ENSP00000346768.4:p.Asn397His
LRG_733:g.13061A>C
LRG_733t1:c.1198A>C
LRG_733p1:p.Asn400His

Variant allele G
2:g.233768333A>G
ENST00000373445.1:c.1189A>G
ENSP00000362544.1:p.Asn397Asp
ENST00000305139.10:c.1195A>G
ENSP00000303174.6:p.Asn399Asp
ENST00000373409.7:c.1201A>G
ENSP00000362508.3:p.Asn401Asp
ENST00000482026.5:c.1201A>G
ENSP00000418532.1:p.Asn401Asp
ENST00000373424.5:c.394A>G
ENSP00000362523.1:p.Asn132Asp
ENST00000446481.6:c.394A>G
ENSP00000401541.1:p.Asn132Asp
ENST00000373426.3:c.1189A>G
ENSP00000362525.3:p.Asn397Asp
ENST00000450233.1:c.1201A>G
ENSP00000408608.1:p.Asn401Asp
ENST00000360418.4:c.1198A>G
ENSP00000353593.3:p.Asn400Asp
ENST00000609767.2:c.1201A>G
ENSP00000476805.2:p.Asn401Asp
ENST00000373414.3:c.1201A>G
ENSP00000362513.3:p.Asn401Asp
ENST00000406651.1:c.394A>G
ENSP00000386107.1:p.Asn132Asp
ENST00000305208.9:c.1198A>G
ENSP00000304845.5:p.Asn400Asp
ENST00000344644.9:c.1189A>G
ENSP00000343838.5:p.Asn397Asp
ENST00000373450.4:c.1189A>G
ENSP00000362549.4:p.Asn397Asp
ENST00000354728.4:c.1189A>G
ENSP00000346768.4:p.Asn397Asp
LRG_733:g.13061A>G
LRG_733t1:c.1198A>G
LRG_733p1:p.Asn400Asp

Genotyping chips

This variant has assays on: Illumina_Human1M-duo

About this variant

This variant overlaps 36 transcripts, is associated with 4 phenotypes and is mentioned in 2 citations.

Variant displays