Canonical Allele Identifier: CA363174901

Gene: VARS2

Linked Data

• dbSNP Id: rs1335425835
• gnomAD v2: 6-30890693-G-A
• gnomAD v3: 6-30922916-G-A
• gnomAD v4: 6-30922916-G-A
• MyVariant Identifiers: chr6:g.30890693G>A (hg19) ; chr6:g.30922916G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922916G>A , CM000668.2:g.30922916G>A	GRCh38
NC_000006.11:g.30890693G>A , CM000668.1:g.30890693G>A	GRCh37
NC_000006.10:g.30998672G>A	NCBI36
NG_034224.1:g.13709G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2125G>A	ENSP00000441000.2:p.Gly709Arg
ENST00000672801.1:c.2119G>A	ENSP00000500615.1:p.Gly707Arg
ENST00000676266.1:c.2125G>A MANE Select	ENSP00000502585.1:p.Gly709Arg
ENST00000321897.9:c.2125G>A	ENSP00000316092.5:p.Gly709Arg
ENST00000469358.5:n.2113G>A
ENST00000476162.5:n.912G>A
ENST00000477052.1:n.211G>A
ENST00000477288.5:n.4738G>A
ENST00000541562.5:c.2215G>A	ENSP00000441000.1:p.Gly739Arg
ENST00000542001.5:c.2119G>A	ENSP00000438200.2:p.Gly707Arg
ENST00000625423.2:c.1705G>A	ENSP00000485818.1:p.Gly569Arg
NM_001167733.2:c.1705G>A	NP_001161205.1:p.Gly569Arg
NM_001167734.1:c.2215G>A	NP_001161206.1:p.Gly739Arg
NM_020442.5:c.2125G>A	NP_065175.4:p.Gly709Arg
NM_001167733.3:c.1705G>A	NP_001161205.1:p.Gly569Arg
NM_001167734.2:c.2215G>A	NP_001161206.1:p.Gly739Arg
NM_020442.6:c.2125G>A MANE Select	NP_065175.4:p.Gly709Arg