Canonical Allele Identifier: CA3706111

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922471C>T , CM000668.2:g.30922471C>T	GRCh38
NC_000006.11:g.30890248C>T , CM000668.1:g.30890248C>T	GRCh37
NC_000006.10:g.30998227C>T	NCBI36
NG_034224.1:g.13264C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.1954C>T MANE Select	NP_065175.4:p.Arg652Trp
ENST00000676266.1:c.1954C>T MANE Select	ENSP00000502585.1:p.Arg652Trp
NM_001167733.2:c.1534C>T	NP_001161205.1:p.Arg512Trp
NM_001167733.3:c.1534C>T	NP_001161205.1:p.Arg512Trp
NM_001167734.1:c.2044C>T	NP_001161206.1:p.Arg682Trp
NM_001167734.2:c.2044C>T	NP_001161206.1:p.Arg682Trp
NM_020442.5:c.1954C>T	NP_065175.4:p.Arg652Trp
ENST00000321897.9:c.1954C>T	ENSP00000316092.5:p.Arg652Trp
ENST00000469358.5:n.1942C>T
ENST00000476162.5:n.741C>T
ENST00000477288.5:n.4567C>T
ENST00000541562.5:c.2044C>T	ENSP00000441000.1:p.Arg682Trp
ENST00000541562.6:c.1954C>T	ENSP00000441000.2:p.Arg652Trp
ENST00000542001.5:c.1948C>T	ENSP00000438200.2:p.Arg650Trp
ENST00000625423.2:c.1534C>T	ENSP00000485818.1:p.Arg512Trp
ENST00000672801.1:c.1948C>T	ENSP00000500615.1:p.Arg650Trp