Canonical Allele Identifier: CA3706146

Gene: VARS2

Linked Data

• ClinVar Variation Id: 1032680
• ClinVar RCV Id: RCV001334847
• dbSNP Id: rs769768815
• ExAC: 6:30890482 G / A
• gnomAD v2: 6-30890482-G-A
• gnomAD v3: 6-30922705-G-A
• gnomAD v4: 6-30922705-G-A
• COSMIC: COSM1270148
• MyVariant Identifiers: chr6:g.30890482G>A (hg19) ; chr6:g.30922705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922705G>A , CM000668.2:g.30922705G>A	GRCh38
NC_000006.11:g.30890482G>A , CM000668.1:g.30890482G>A	GRCh37
NC_000006.10:g.30998461G>A	NCBI36
NG_034224.1:g.13498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2038-1G>A	ENSP00000441000.2:n.2038-1G>A
ENST00000672801.1:c.2032-1G>A	ENSP00000500615.1:n.2032-1G>A
ENST00000676266.1:c.2038-1G>A MANE Select	ENSP00000502585.1:n.2038-1G>A
ENST00000321897.9:c.2038-1G>A	ENSP00000316092.5:n.2038-1G>A
ENST00000469358.5:n.2026-1G>A
ENST00000476162.5:n.825-1G>A
ENST00000477052.1:n.123G>A
ENST00000477288.5:n.4651-1G>A
ENST00000541562.5:c.2128-1G>A	ENSP00000441000.1:n.2128-1G>A
ENST00000542001.5:c.2032-1G>A	ENSP00000438200.2:n.2032-1G>A
ENST00000625423.2:c.1618-1G>A	ENSP00000485818.1:n.1618-1G>A
NM_001167733.2:c.1618-1G>A	NP_001161205.1:n.1618-1G>A
NM_001167734.1:c.2128-1G>A	NP_001161206.1:n.2128-1G>A
NM_020442.5:c.2038-1G>A	NP_065175.4:n.2038-1G>A
NM_001167733.3:c.1618-1G>A	NP_001161205.1:n.1618-1G>A
NM_001167734.2:c.2128-1G>A	NP_001161206.1:n.2128-1G>A
NM_020442.6:c.2038-1G>A MANE Select	NP_065175.4:n.2038-1G>A