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 2:127426208 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM910314, CM951008

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 17272

HGVS names

This variant has 20 HGVS names - Hide

Variant allele A
2:g.127426208G>A
ENST00000409048.1:c.761G>A
ENSP00000386679.1:p.Arg254Gln
ENST00000402125.2:c.121-2149G>A
ENST00000464089.1:n.245G>A
ENST00000234071.7:c.659G>A
ENSP00000234071.3:p.Arg220Gln
LRG_599:g.12789G>A
LRG_599t1:c.659G>A
LRG_599p1:p.Arg220Gln

Variant allele T
2:g.127426208G>T
ENST00000409048.1:c.761G>T
ENSP00000386679.1:p.Arg254Leu
ENST00000402125.2:c.121-2149G>T
ENST00000464089.1:n.245G>T
ENST00000234071.7:c.659G>T
ENSP00000234071.3:p.Arg220Leu
LRG_599:g.12789G>T
LRG_599t1:c.659G>T
LRG_599p1:p.Arg220Leu

About this variant

This variant overlaps 24 transcripts and is associated with 2 phenotypes.

Variant displays