Original source

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

Alleles
C/A/T|Ancestral: C|Ambiguity code: H
Location

Chromosome 2:127426180 (forward strand)|View in location tab

Co-located variant

HGMD-PUBLIC CM880060

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

This variant has 3 synonyms - Show

HGVS names

This variant has 20 HGVS names - Hide

Variant allele A
2:g.127426180C>A
ENST00000402125.2:c.121-2177C>A
ENST00000409048.1:c.733C>A
ENST00000409048.1:c.733C>A(p.=)
ENST00000464089.1:n.217C>A
ENST00000234071.7:c.631C>A
ENST00000234071.7:c.631C>A(p.=)
LRG_599:g.12761C>A
LRG_599t1:c.631C>A
LRG_599t1:c.631C>A(p.=)

Variant allele T
2:g.127426180C>T
ENST00000402125.2:c.121-2177C>T
ENST00000409048.1:c.733C>T
ENSP00000386679.1:p.Arg245Trp
ENST00000464089.1:n.217C>T
ENST00000234071.7:c.631C>T
ENSP00000234071.3:p.Arg211Trp
LRG_599:g.12761C>T
LRG_599t1:c.631C>T
LRG_599p1:p.Arg211Trp

Genotyping chips

This variant has assays on: HumanCoreExome-12

About this variant

This variant overlaps 24 transcripts and is associated with 3 phenotypes.

Variant displays