Original source

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

Alleles
G/A | Ancestral: G | Ambiguity code: R
Location

Chromosome 2:127421438 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM920593

Most severe consequence
Clinical significance

Synonyms

LSDB 17268

This variation has 14 HGVS names - click the plus to show

2:g.127421438G>A
ENST00000429925.3:c.226G>A
ENSP00000412697.1:p.Val76Met
ENST00000409048.1:c.226G>A
ENSP00000386679.1:p.Val76Met
ENST00000427769.3:c.226G>A
ENSP00000406295.1:p.Val76Met
ENST00000419985.3:c.*32G>A
ENST00000474030.3:n.309G>A
ENST00000431364.1:c.*32G>A
ENST00000234071.5:c.226G>A
ENSP00000234071.3:p.Val76Met
ENST00000442644.3:c.226G>A
ENSP00000411241.1:p.Val76Met

Variation displays