This variant has been flagged

Variation has more than 3 different alleles

Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
G/A/C/T|Ancestral: G|Ambiguity code: N
Location

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

Co-located variants

COSMIC COSM574424 ; HGMD-PUBLIC CM970064, CM056287

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

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

HGVS names

This variant has 12 HGVS names - Hide

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

Variant allele C
2:g.240875126G>C
ENST00000476698.1:n.350G>C
ENST00000307503.3:c.698G>C
ENSP00000302620.3:p.Arg233Pro

About this variant

This variant overlaps 12 transcripts and is associated with 3 phenotypes.

Variant displays