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 2:240875166 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM970067

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 12572, NM_000030.2:c.738G>A

HGVS names

This variant has 4 HGVS names - Hide

2:g.240875166G>A
ENST00000476698.1:n.390G>A
ENST00000307503.3:c.738G>A
ENSP00000302620.3:p.Trp246Ter

About this variant

This variant overlaps 4 transcripts and is associated with 2 phenotypes.

Variant displays