Original source

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

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

Chromosome 2:127426207 (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 7 HGVS names - click the plus to show

2:g.127426207C>T
ENST00000402125.2:c.121-2150C>T
ENST00000409048.1:c.760C>T
ENSP00000386679.1:p.Arg254Trp
ENST00000464089.1:n.244C>T
ENST00000234071.5:c.658C>T
ENSP00000234071.3:p.Arg220Trp

Variation displays