Canonical Allele Identifier: CA3706278

Gene: VARS2

Linked Data

• dbSNP Id: rs759807958
• ExAC: 6:30891317 G / A
• gnomAD v2: 6-30891317-G-A
• MyVariant Identifiers: chr6:g.30891317G>A (hg19) ; chr6:g.30923540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923540G>A , CM000668.2:g.30923540G>A	GRCh38
NC_000006.11:g.30891317G>A , CM000668.1:g.30891317G>A	GRCh37
NC_000006.10:g.30999296G>A	NCBI36
NG_034224.1:g.14333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2466+35G>A	ENSP00000441000.2:n.2466+35G>A
ENST00000672801.1:c.2460+35G>A	ENSP00000500615.1:n.2460+35G>A
ENST00000676266.1:c.2466+35G>A MANE Select	ENSP00000502585.1:n.2466+35G>A
ENST00000321897.9:c.2466+35G>A	ENSP00000316092.5:n.2466+35G>A
ENST00000469358.5:n.2454+35G>A
ENST00000473916.1:n.212G>A
ENST00000476162.5:n.1253+35G>A
ENST00000477288.5:n.5079+35G>A
ENST00000541562.5:c.2556+35G>A	ENSP00000441000.1:n.2556+35G>A
ENST00000542001.5:c.2460+35G>A	ENSP00000438200.2:n.2460+35G>A
ENST00000625423.2:c.2046+35G>A	ENSP00000485818.1:n.2046+35G>A
NM_001167733.2:c.2046+35G>A	NP_001161205.1:n.2046+35G>A
NM_001167734.1:c.2556+35G>A	NP_001161206.1:n.2556+35G>A
NM_020442.5:c.2466+35G>A	NP_065175.4:n.2466+35G>A
NM_001167733.3:c.2046+35G>A	NP_001161205.1:n.2046+35G>A
NM_001167734.2:c.2556+35G>A	NP_001161206.1:n.2556+35G>A
NM_020442.6:c.2466+35G>A MANE Select	NP_065175.4:n.2466+35G>A