Most severe consequence
 
Missense variant
Alleles
G/A|Ancestral: G|Highest population MAF: < 0.01
Location

Chromosome 2:218892813 (forward strand)|View in location tab

Co-located variants

COSMIC COSM5686638 ; HGMD-PUBLIC CM108448, CM132016

Evidence status

HGVS names

This variant has 7 HGVS names - Show

Synonyms

Uniprot VAR_077452

Original source

Variants (including SNPs and indels) imported from dbSNP (release 149)|View in dbSNP

About this variant

This variant overlaps 4 transcripts and 1 regulatory feature.

Variant displays