Original source

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

Alleles
C/T | Ancestral: C | Ambiguity code: Y
Location

Chromosome 2:128183783 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910315

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB PC-HY15, 17271

This variation has 11 HGVS names - click the plus to show

2:g.128183783C>T
ENST00000402125.2:c.121-2150C>T
ENST00000409048.1:c.760C>T
ENSP00000386679.1:p.Arg254Trp
ENST00000464089.1:n.244C>T
ENST00000453608.2:c.823C>T
ENSP00000404030.2:p.Arg275Trp
ENST00000422777.3:c.658C>T
ENSP00000409543.3:p.Arg220Trp
ENST00000234071.3:c.658C>T
ENSP00000234071.3:p.Arg220Trp

Variation displays