Original source

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

Alleles
G/C | Ancestral: G | Ambiguity code: S
Location

Chromosome 2:127428892 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM870019

Most severe consequence
Clinical significance

Synonyms

LSDB 17260

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

2:g.127428892G>C
ENST00000402125.2:c.656G>C
ENSP00000384225.2:p.Trp219Cys
ENST00000409048.1:c.1434G>C
ENSP00000386679.1:p.Trp478Cys
ENST00000234071.5:c.1332G>C
ENSP00000234071.3:p.Trp444Cys

Variation displays