Original source

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

Alleles
G/A/T|Ancestral: G|Ambiguity code: D
Location

Chromosome 2:201726854 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM031932

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

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

HGVS names

This variant has 14 HGVS names - Hide

Variant allele A
2:g.201726854G>A
ENST00000494017.5:n.519C>T
ENST00000264276.10:c.2992C>T
ENSP00000264276.6:p.Arg998Ter
ENST00000482891.5:n.3132C>T
ENST00000439495.5:c.953C>T
ENSP00000403832.1:p.Arg319Ter

Variant allele T
2:g.201726854G>T
ENST00000494017.5:n.519C>A
ENST00000264276.10:c.2992C>A
ENST00000264276.10:c.2992C>A(p.=)
ENST00000482891.5:n.3132C>A
ENST00000439495.5:c.953C>A
ENST00000439495.5:c.953C>A(p.=)

About this variant

This variant overlaps 12 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays