Canonical Allele Identifier: CA363175878

Gene: VARS2

Linked Data

• COSMIC: COSM5794865
• MyVariant Identifiers: chr6:g.30891273C>A (hg19) ; chr6:g.30923496C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923496C>A , CM000668.2:g.30923496C>A	GRCh38
NC_000006.11:g.30891273C>A , CM000668.1:g.30891273C>A	GRCh37
NC_000006.10:g.30999252C>A	NCBI36
NG_034224.1:g.14289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2457C>A	ENSP00000441000.2:p.Asp819Glu
ENST00000672801.1:c.2451C>A	ENSP00000500615.1:p.Asp817Glu
ENST00000676266.1:c.2457C>A MANE Select	ENSP00000502585.1:p.Asp819Glu
ENST00000321897.9:c.2457C>A	ENSP00000316092.5:p.Asp819Glu
ENST00000469358.5:n.2445C>A
ENST00000473916.1:n.168C>A
ENST00000476162.5:n.1244C>A
ENST00000477052.1:n.543C>A
ENST00000477288.5:n.5070C>A
ENST00000541562.5:c.2547C>A	ENSP00000441000.1:p.Asp849Glu
ENST00000542001.5:c.2451C>A	ENSP00000438200.2:p.Asp817Glu
ENST00000625423.2:c.2037C>A	ENSP00000485818.1:p.Asp679Glu
NM_001167733.2:c.2037C>A	NP_001161205.1:p.Asp679Glu
NM_001167734.1:c.2547C>A	NP_001161206.1:p.Asp849Glu
NM_020442.5:c.2457C>A	NP_065175.4:p.Asp819Glu
NM_001167733.3:c.2037C>A	NP_001161205.1:p.Asp679Glu
NM_001167734.2:c.2547C>A	NP_001161206.1:p.Asp849Glu
NM_020442.6:c.2457C>A MANE Select	NP_065175.4:p.Asp819Glu