Canonical Allele Identifier: CA3706158

Gene: VARS2

Linked Data

• ClinVar Variation Id: 3188202
• ClinVar RCV Id: RCV004480114
• dbSNP Id: rs575936370
• ExAC: 6:30890547 C / A
• gnomAD v2: 6-30890547-C-A
• gnomAD v3: 6-30922770-C-A
• gnomAD v4: 6-30922770-C-A
• MyVariant Identifiers: chr6:g.30890547C>A (hg19) ; chr6:g.30922770C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922770C>A , CM000668.2:g.30922770C>A	GRCh38
NC_000006.11:g.30890547C>A , CM000668.1:g.30890547C>A	GRCh37
NC_000006.10:g.30998526C>A	NCBI36
NG_034224.1:g.13563C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2102C>A	ENSP00000441000.2:p.Ala701Glu
ENST00000672801.1:c.2096C>A	ENSP00000500615.1:p.Ala699Glu
ENST00000676266.1:c.2102C>A MANE Select	ENSP00000502585.1:p.Ala701Glu
ENST00000321897.9:c.2102C>A	ENSP00000316092.5:p.Ala701Glu
ENST00000469358.5:n.2090C>A
ENST00000476162.5:n.889C>A
ENST00000477052.1:n.188C>A
ENST00000477288.5:n.4715C>A
ENST00000541562.5:c.2192C>A	ENSP00000441000.1:p.Ala731Glu
ENST00000542001.5:c.2096C>A	ENSP00000438200.2:p.Ala699Glu
ENST00000625423.2:c.1682C>A	ENSP00000485818.1:p.Ala561Glu
NM_001167733.2:c.1682C>A	NP_001161205.1:p.Ala561Glu
NM_001167734.1:c.2192C>A	NP_001161206.1:p.Ala731Glu
NM_020442.5:c.2102C>A	NP_065175.4:p.Ala701Glu
NM_001167733.3:c.1682C>A	NP_001161205.1:p.Ala561Glu
NM_001167734.2:c.2192C>A	NP_001161206.1:p.Ala731Glu
NM_020442.6:c.2102C>A MANE Select	NP_065175.4:p.Ala701Glu