Original source

Variants (including SNPs and indels) imported from dbSNP (mapped to GRCh38) (release 138) | 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
Clinical significance

Synonyms

LSDB 16170

This variation has 15 HGVS names - click the plus to show

2:g.241767718A>G
ENST00000445308.1:c.711A>G
ENSP00000387479.1:p.Asn238Asp
ENST00000612819.1:c.*156A>G
ENST00000473126.1:n.514A>G
ENST00000321264.5:c.1315A>G
ENSP00000315351.4:p.Asn439Asp
ENST00000610344.1:c.*159A>G
ENST00000468064.2:n.1205A>G
ENST00000403782.2:c.913A>G
ENSP00000384723.1:p.Asn305Asp
ENST00000400769.3:c.*65A>G
ENST00000436747.2:c.*2551A>G
ENST00000470343.2:n.796A>G
ENST00000486953.2:n.1139A>G

Variation displays