Canonical Allele Identifier: CA363173597

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30921256G>A , CM000668.2:g.30921256G>A	GRCh38
NC_000006.11:g.30889033G>A , CM000668.1:g.30889033G>A	GRCh37
NC_000006.10:g.30997012G>A	NCBI36
NG_034224.1:g.12049G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.1583G>A MANE Select	NP_065175.4:p.Trp528Ter
ENST00000676266.1:c.1583G>A MANE Select	ENSP00000502585.1:p.Trp528Ter
NM_001167733.2:c.1163G>A	NP_001161205.1:p.Trp388Ter
NM_001167733.3:c.1163G>A	NP_001161205.1:p.Trp388Ter
NM_001167734.1:c.1673G>A	NP_001161206.1:p.Trp558Ter
NM_001167734.2:c.1673G>A	NP_001161206.1:p.Trp558Ter
NM_020442.5:c.1583G>A	NP_065175.4:p.Trp528Ter
ENST00000321897.9:c.1583G>A	ENSP00000316092.5:p.Trp528Ter
ENST00000469358.5:n.1503G>A
ENST00000476162.5:n.441G>A
ENST00000477288.5:n.4196G>A
ENST00000541562.5:c.1673G>A	ENSP00000441000.1:p.Trp558Ter
ENST00000541562.6:c.1583G>A	ENSP00000441000.2:p.Trp528Ter
ENST00000542001.5:c.1577G>A	ENSP00000438200.2:p.Trp526Ter
ENST00000625423.2:c.1163G>A	ENSP00000485818.1:p.Trp388Ter
ENST00000672801.1:c.1577G>A	ENSP00000500615.1:p.Trp526Ter