Canonical Allele Identifier: CA3706312

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30924476G>C , CM000668.2:g.30924476G>C	GRCh38
NC_000006.11:g.30892253G>C , CM000668.1:g.30892253G>C	GRCh37
NC_000006.10:g.31000232G>C	NCBI36
NG_034224.1:g.15269G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.2589G>C MANE Select	NP_065175.4:p.Glu863Asp
ENST00000676266.1:c.2589G>C MANE Select	ENSP00000502585.1:p.Glu863Asp
NM_001167733.2:c.2169G>C	NP_001161205.1:p.Glu723Asp
NM_001167733.3:c.2169G>C	NP_001161205.1:p.Glu723Asp
NM_001167734.1:c.2679G>C	NP_001161206.1:p.Glu893Asp
NM_001167734.2:c.2679G>C	NP_001161206.1:p.Glu893Asp
NM_020442.5:c.2589G>C	NP_065175.4:p.Glu863Asp
ENST00000321897.9:c.2589G>C	ENSP00000316092.5:p.Glu863Asp
ENST00000469358.5:n.2577G>C
ENST00000473916.1:n.1148G>C
ENST00000476162.5:n.1376G>C
ENST00000477288.5:n.5202G>C
ENST00000541562.5:c.2679G>C	ENSP00000441000.1:p.Glu893Asp
ENST00000541562.6:c.2589G>C	ENSP00000441000.2:p.Glu863Asp
ENST00000542001.5:c.2583G>C	ENSP00000438200.2:p.Glu861Asp
ENST00000625423.2:c.2169G>C	ENSP00000485818.1:p.Glu723Asp
ENST00000672801.1:c.2583G>C	ENSP00000500615.1:p.Glu861Asp