Original source

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

Alleles
G/A|Ancestral: G|Ambiguity code: R
Location

Chromosome 2:127421438 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM920593

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17268

HGVS names

This variant has 17 HGVS names - Hide

2:g.127421438G>A
ENST00000409048.1:c.226G>A
ENSP00000386679.1:p.Val76Met
ENST00000429925.5:c.226G>A
ENSP00000412697.1:p.Val76Met
ENST00000427769.5:c.226G>A
ENSP00000406295.1:p.Val76Met
ENST00000419985.5:c.*32G>A
ENST00000474030.5:n.309G>A
ENST00000431364.1:c.*32G>A
ENST00000234071.7:c.226G>A
ENSP00000234071.3:p.Val76Met
ENST00000442644.5:c.226G>A
ENSP00000411241.1:p.Val76Met
LRG_599:g.8019G>A
LRG_599t1:c.226G>A
LRG_599p1:p.Val76Met

About this variant

This variant overlaps 12 transcripts and is associated with 2 phenotypes.

Variant displays