Canonical Allele Identifier: CA363175285

Gene: VARS2

Linked Data

• dbSNP Id: rs1324558107
• gnomAD v2: 6-30890991-C-G
• gnomAD v3: 6-30923214-C-G
• gnomAD v4: 6-30923214-C-G
• MyVariant Identifiers: chr6:g.30890991C>G (hg19) ; chr6:g.30923214C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923214C>G , CM000668.2:g.30923214C>G	GRCh38
NC_000006.11:g.30890991C>G , CM000668.1:g.30890991C>G	GRCh37
NC_000006.10:g.30998970C>G	NCBI36
NG_034224.1:g.14007C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2296C>G	ENSP00000441000.2:p.Pro766Ala
ENST00000672801.1:c.2290C>G	ENSP00000500615.1:p.Pro764Ala
ENST00000676266.1:c.2296C>G MANE Select	ENSP00000502585.1:p.Pro766Ala
ENST00000321897.9:c.2296C>G	ENSP00000316092.5:p.Pro766Ala
ENST00000469358.5:n.2284C>G
ENST00000473916.1:n.7C>G
ENST00000476162.5:n.1083C>G
ENST00000477052.1:n.382C>G
ENST00000477288.5:n.4909C>G
ENST00000541562.5:c.2386C>G	ENSP00000441000.1:p.Pro796Ala
ENST00000542001.5:c.2290C>G	ENSP00000438200.2:p.Pro764Ala
ENST00000625423.2:c.1876C>G	ENSP00000485818.1:p.Pro626Ala
NM_001167733.2:c.1876C>G	NP_001161205.1:p.Pro626Ala
NM_001167734.1:c.2386C>G	NP_001161206.1:p.Pro796Ala
NM_020442.5:c.2296C>G	NP_065175.4:p.Pro766Ala
NM_001167733.3:c.1876C>G	NP_001161205.1:p.Pro626Ala
NM_001167734.2:c.2386C>G	NP_001161206.1:p.Pro796Ala
NM_020442.6:c.2296C>G MANE Select	NP_065175.4:p.Pro766Ala