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 2:201744285 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM085235

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_020919.2:c.2143C>T, 13745

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

2:g.201744285G>A
ENST00000482891.3:n.2283C>T
ENST00000264276.8:c.2143C>T
ENSP00000264276.6:p.Gln715Ter
ENST00000482789.3:n.2283C>T
ENST00000439495.3:c.104C>T
ENSP00000403832.1:p.Gln36Ter

Variation displays