Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | View in dbSNP

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

Chromosome 2:201726854 (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 7 HGVS names - click the plus to show

2:g.201726854G>A
ENST00000494017.2:n.519C>T
ENST00000264276.7:c.2992C>T
ENSP00000264276.6:p.Arg998Ter
ENST00000482891.2:n.3132C>T
ENST00000439495.2:c.953C>T
ENSP00000403832.1:p.Arg319Ter

Variation displays