Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | 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
Evidence status

Clinical significance

Synonyms

LSDB 17268

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

2:g.127421438G>A
ENST00000429925.4:c.226G>A
ENSP00000412697.1:p.Val76Met
ENST00000409048.1:c.226G>A
ENSP00000386679.1:p.Val76Met
ENST00000427769.4:c.226G>A
ENSP00000406295.1:p.Val76Met
ENST00000419985.4:c.*32G>A
ENST00000431364.1:c.*32G>A
ENST00000474030.4:n.309G>A
ENST00000234071.6:c.226G>A
ENSP00000234071.3:p.Val76Met
ENST00000442644.4:c.226G>A
ENSP00000411241.1:p.Val76Met

About this variant

This variant overlaps 11 transcripts and is associated with 2 phenotypes.

Variation displays