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 2:127428602 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM870018

Most severe consequence
Clinical significance

Synonyms

LSDB 17259

This variation has 7 HGVS names - click the plus to show

2:g.127428602C>T
ENST00000409048.1:c.1144C>T
ENSP00000386679.1:p.Arg382Ter
ENST00000402125.2:c.366C>T
ENSP00000384225.2:p.Arg123Ter
ENST00000234071.5:c.1042C>T
ENSP00000234071.3:p.Arg348Ter

Variation displays