Canonical Allele Identifier: CA566687743

Gene: VARS2

Linked Data

• dbSNP Id: rs1233817733
• gnomAD v2: 6-30891327-A-G
• gnomAD v4: 6-30923550-A-G
• MyVariant Identifiers: chr6:g.30891327A>G (hg19) ; chr6:g.30923550A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923550A>G , CM000668.2:g.30923550A>G	GRCh38
NC_000006.11:g.30891327A>G , CM000668.1:g.30891327A>G	GRCh37
NC_000006.10:g.30999306A>G	NCBI36
NG_034224.1:g.14343A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2466+45A>G	ENSP00000441000.2:n.2466+45A>G
ENST00000672801.1:c.2460+45A>G	ENSP00000500615.1:n.2460+45A>G
ENST00000676266.1:c.2466+45A>G MANE Select	ENSP00000502585.1:n.2466+45A>G
ENST00000321897.9:c.2466+45A>G	ENSP00000316092.5:n.2466+45A>G
ENST00000469358.5:n.2454+45A>G
ENST00000473916.1:n.222A>G
ENST00000476162.5:n.1253+45A>G
ENST00000477288.5:n.5079+45A>G
ENST00000541562.5:c.2556+45A>G	ENSP00000441000.1:n.2556+45A>G
ENST00000542001.5:c.2460+45A>G	ENSP00000438200.2:n.2460+45A>G
ENST00000625423.2:c.2046+45A>G	ENSP00000485818.1:n.2046+45A>G
NM_001167733.2:c.2046+45A>G	NP_001161205.1:n.2046+45A>G
NM_001167734.1:c.2556+45A>G	NP_001161206.1:n.2556+45A>G
NM_020442.5:c.2466+45A>G	NP_065175.4:n.2466+45A>G
NM_001167733.3:c.2046+45A>G	NP_001161205.1:n.2046+45A>G
NM_001167734.2:c.2556+45A>G	NP_001161206.1:n.2556+45A>G
NM_020442.6:c.2466+45A>G MANE Select	NP_065175.4:n.2466+45A>G