Canonical Allele Identifier: CA363175125

Gene: VARS2

Linked Data

• ClinVar Variation Id: 2087771
• ClinVar RCV Id: RCV003000109
• dbSNP Id: rs1794636122
• MyVariant Identifiers: chr6:g.30890919T>G (hg19) ; chr6:g.30923142T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923142T>G , CM000668.2:g.30923142T>G	GRCh38
NC_000006.11:g.30890919T>G , CM000668.1:g.30890919T>G	GRCh37
NC_000006.10:g.30998898T>G	NCBI36
NG_034224.1:g.13935T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2224T>G	ENSP00000441000.2:p.Cys742Gly
ENST00000672801.1:c.2218T>G	ENSP00000500615.1:p.Cys740Gly
ENST00000676266.1:c.2224T>G MANE Select	ENSP00000502585.1:p.Cys742Gly
ENST00000321897.9:c.2224T>G	ENSP00000316092.5:p.Cys742Gly
ENST00000469358.5:n.2212T>G
ENST00000476162.5:n.1011T>G
ENST00000477052.1:n.310T>G
ENST00000477288.5:n.4837T>G
ENST00000541562.5:c.2314T>G	ENSP00000441000.1:p.Cys772Gly
ENST00000542001.5:c.2218T>G	ENSP00000438200.2:p.Cys740Gly
ENST00000625423.2:c.1804T>G	ENSP00000485818.1:p.Cys602Gly
NM_001167733.2:c.1804T>G	NP_001161205.1:p.Cys602Gly
NM_001167734.1:c.2314T>G	NP_001161206.1:p.Cys772Gly
NM_020442.5:c.2224T>G	NP_065175.4:p.Cys742Gly
NM_001167733.3:c.1804T>G	NP_001161205.1:p.Cys602Gly
NM_001167734.2:c.2314T>G	NP_001161206.1:p.Cys772Gly
NM_020442.6:c.2224T>G MANE Select	NP_065175.4:p.Cys742Gly