Original source

Variants (including SNPs and indels) imported from dbSNP (release 138) | View in dbSNP

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

Chromosome 2:202591577 (forward strand) | View in location tab

Co-located

with COSMIC COSM1129384 (G/T) ; HGMD-PUBLIC CM031932

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB 13741, NM_020919.2:c.2992C>T

This variation has 9 HGVS names - click the plus to show

2:g.202591577G>A
ENST00000494017.1:n.519C>T
ENST00000482891.1:n.3132C>T
ENST00000264276.6:c.2992C>T
ENSP00000264276.6:p.Arg998Ter
ENST00000439495.1:c.953C>T
ENSP00000403832.1:p.Arg319Ter
ENST00000457679.2:c.928C>T
ENSP00000394823.2:p.Arg310Ter

Variation displays