Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 2:201761524 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM061636

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 13743, NM_020919.2:c.470G>A

This variant has 8 HGVS names - click the plus to show

2:g.201761524C>T
ENST00000467448.5:c.470G>A
ENSP00000429223.1:p.Cys157Tyr
ENST00000264276.10:c.470G>A
ENSP00000264276.6:p.Cys157Tyr
ENST00000482891.5:n.610G>A
ENST00000482789.5:n.610G>A
ENST00000496244.5:n.647G>A

About this variant

This variant overlaps 10 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays