Original source

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

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

Chromosome 2:127428895 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910320

Most severe consequence
Clinical significance

Synonyms

LSDB 17279

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

2:g.127428895C>G
ENST00000402125.2:c.659C>G
ENSP00000384225.2:p.Ile220Met
ENST00000409048.1:c.1437C>G
ENSP00000386679.1:p.Ile479Met
ENST00000234071.5:c.1335C>G
ENSP00000234071.3:p.Ile445Met

Variation displays