Original source

Variants (including SNPs and indels) imported from dbSNP (release 142) | View in dbSNP

Alleles
C/G | Ancestral: C | Ambiguity code: S
Location

Chromosome 2:240869202 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM910015

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB NM_000030.2:c.198C>G, 12565

This variant has 4 HGVS names - click the plus to show

2:g.240869202C>G
ENST00000472436.1:n.218C>G
ENST00000307503.3:c.198C>G
ENSP00000302620.3:p.Tyr66Ter

About this variant

This variant overlaps 3 transcripts and is associated with 2 phenotypes.

Variant displays