Canonical Allele Identifier: CA363175024

Gene: VARS2

Linked Data

• gnomAD v4: 6-30922974-A-G
• MyVariant Identifiers: chr6:g.30890751A>G (hg19) ; chr6:g.30922974A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922974A>G , CM000668.2:g.30922974A>G	GRCh38
NC_000006.11:g.30890751A>G , CM000668.1:g.30890751A>G	GRCh37
NC_000006.10:g.30998730A>G	NCBI36
NG_034224.1:g.13767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2183A>G	ENSP00000441000.2:p.Gln728Arg
ENST00000672801.1:c.2177A>G	ENSP00000500615.1:p.Gln726Arg
ENST00000676266.1:c.2183A>G MANE Select	ENSP00000502585.1:p.Gln728Arg
ENST00000321897.9:c.2183A>G	ENSP00000316092.5:p.Gln728Arg
ENST00000469358.5:n.2171A>G
ENST00000476162.5:n.970A>G
ENST00000477052.1:n.269A>G
ENST00000477288.5:n.4796A>G
ENST00000541562.5:c.2273A>G	ENSP00000441000.1:p.Gln758Arg
ENST00000542001.5:c.2177A>G	ENSP00000438200.2:p.Gln726Arg
ENST00000625423.2:c.1763A>G	ENSP00000485818.1:p.Gln588Arg
NM_001167733.2:c.1763A>G	NP_001161205.1:p.Gln588Arg
NM_001167734.1:c.2273A>G	NP_001161206.1:p.Gln758Arg
NM_020442.5:c.2183A>G	NP_065175.4:p.Gln728Arg
NM_001167733.3:c.1763A>G	NP_001161205.1:p.Gln588Arg
NM_001167734.2:c.2273A>G	NP_001161206.1:p.Gln758Arg
NM_020442.6:c.2183A>G MANE Select	NP_065175.4:p.Gln728Arg