Original source

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

Alleles
A/G | Ancestral: A | Ambiguity code: R
Location

Chromosome 2:241767718 (forward strand) | View in location tab

Co-located

with HGMD-PUBLIC CM053831

Most severe consequence
 
Missense variant
Evidence status

Clinical significance

Synonyms

LSDB 16170

This variant has 14 HGVS names - click the plus to show

2:g.241767718A>G
ENST00000445308.1:c.711A>G
ENSP00000387479.1:p.Asn238Asp
ENST00000473126.1:n.514A>G
ENST00000321264.8:c.1315A>G
ENSP00000315351.4:p.Asn439Asp
ENST00000610344.1:c.*159A>G
ENST00000468064.5:n.1205A>G
ENST00000403782.5:c.913A>G
ENSP00000384723.1:p.Asn305Asp
ENST00000400769.6:c.*65A>G
ENST00000436747.5:c.*2551A>G
ENST00000470343.5:n.796A>G
ENST00000486953.5:n.1139A>G

About this variant

This variant overlaps 10 transcripts and is associated with 2 phenotypes.

Variant displays