Canonical Allele Identifier: CA3705513

Gene: VARS2

Linked Data

• ClinVar Variation Id: 380189
• ClinVar RCV Id: RCV000432036 ; RCV000676481
• dbSNP Id: rs6926723
• ExAC: 6:30882803 G / A
• gnomAD v2: 6-30882803-G-A
• gnomAD v3: 6-30915026-G-A
• gnomAD v4: 6-30915026-G-A
• MyVariant Identifiers: chr6:g.30882803G>A (hg19) ; chr6:g.30915026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30915026G>A , CM000668.2:g.30915026G>A	GRCh38
NC_000006.11:g.30882803G>A , CM000668.1:g.30882803G>A	GRCh37
NC_000006.10:g.30990782G>A	NCBI36
NG_034224.1:g.5819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.190G>A	ENSP00000441000.2:p.Gly64Arg
ENST00000672801.1:c.190G>A	ENSP00000500615.1:p.Gly64Arg
ENST00000676266.1:c.190G>A MANE Select	ENSP00000502585.1:p.Gly64Arg
ENST00000321897.9:c.190G>A	ENSP00000316092.5:p.Gly64Arg
ENST00000421263.1:c.190G>A	ENSP00000416390.1:p.Gly64Arg
ENST00000428017.5:c.190G>A	ENSP00000403749.1:p.Gly64Arg
ENST00000467717.5:n.80-130G>A
ENST00000477288.5:n.2778G>A
ENST00000541562.5:c.280G>A	ENSP00000441000.1:p.Gly94Arg
ENST00000542001.5:c.190G>A	ENSP00000438200.2:p.Gly64Arg
ENST00000625423.2:c.-219-130G>A	ENSP00000485818.1:n.-219-130G>A
NM_001167733.2:c.-219-130G>A	NP_001161205.1:n.-219-130G>A
NM_001167734.1:c.280G>A	NP_001161206.1:p.Gly94Arg
NM_020442.5:c.190G>A	NP_065175.4:p.Gly64Arg
NM_001167733.3:c.-219-130G>A	NP_001161205.1:n.-219-130G>A
NM_001167734.2:c.280G>A	NP_001161206.1:p.Gly94Arg
NM_020442.6:c.190G>A MANE Select	NP_065175.4:p.Gly64Arg