Canonical Allele Identifier: CA363173725

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30921298A>G , CM000668.2:g.30921298A>G	GRCh38
NC_000006.11:g.30889075A>G , CM000668.1:g.30889075A>G	GRCh37
NC_000006.10:g.30997054A>G	NCBI36
NG_034224.1:g.12091A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.1625A>G MANE Select	NP_065175.4:p.His542Arg
ENST00000676266.1:c.1625A>G MANE Select	ENSP00000502585.1:p.His542Arg
NM_001167733.2:c.1205A>G	NP_001161205.1:p.His402Arg
NM_001167733.3:c.1205A>G	NP_001161205.1:p.His402Arg
NM_001167734.1:c.1715A>G	NP_001161206.1:p.His572Arg
NM_001167734.2:c.1715A>G	NP_001161206.1:p.His572Arg
NM_020442.5:c.1625A>G	NP_065175.4:p.His542Arg
ENST00000321897.9:c.1625A>G	ENSP00000316092.5:p.His542Arg
ENST00000469358.5:n.1545A>G
ENST00000476162.5:n.483A>G
ENST00000477288.5:n.4238A>G
ENST00000541562.5:c.1715A>G	ENSP00000441000.1:p.His572Arg
ENST00000541562.6:c.1625A>G	ENSP00000441000.2:p.His542Arg
ENST00000542001.5:c.1619A>G	ENSP00000438200.2:p.His540Arg
ENST00000625423.2:c.1205A>G	ENSP00000485818.1:p.His402Arg
ENST00000672801.1:c.1619A>G	ENSP00000500615.1:p.His540Arg