Original source

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

Alleles
G/A/T | Ancestral: G | Ambiguity code: D
Location

Chromosome 2:240875126 (forward strand) | View in location tab

Co-located

with COSMIC COSM574424 (G/T) ; HGMD-PUBLIC CM970064, CM056287

Most severe consequence
Evidence status

Clinical significance

Synonyms

LSDB NM_000030.2:c.698G>T, 12571, NM_000030.2:c.698G>A

This variation has 8 HGVS names - click the plus to show

Variant allele A
2:g.240875126G>A
ENST00000476698.1:n.350G>A
ENST00000307503.3:c.698G>A
ENSP00000302620.3:p.Arg233His

Variant allele T
2:g.240875126G>T
ENST00000476698.1:n.350G>T
ENST00000307503.3:c.698G>T
ENSP00000302620.3:p.Arg233Leu

Variation displays