Canonical Allele Identifier: CA3706162

Gene: VARS2

Linked Data

• dbSNP Id: rs745712955
• ExAC: 6:30890563 C / A
• gnomAD v2: 6-30890563-C-A
• gnomAD v4: 6-30922786-C-A
• MyVariant Identifiers: chr6:g.30890563C>A (hg19) ; chr6:g.30922786C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922786C>A , CM000668.2:g.30922786C>A	GRCh38
NC_000006.11:g.30890563C>A , CM000668.1:g.30890563C>A	GRCh37
NC_000006.10:g.30998542C>A	NCBI36
NG_034224.1:g.13579C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2106+12C>A	ENSP00000441000.2:n.2106+12C>A
ENST00000672801.1:c.2100+12C>A	ENSP00000500615.1:n.2100+12C>A
ENST00000676266.1:c.2106+12C>A MANE Select	ENSP00000502585.1:n.2106+12C>A
ENST00000321897.9:c.2106+12C>A	ENSP00000316092.5:n.2106+12C>A
ENST00000469358.5:n.2094+12C>A
ENST00000476162.5:n.893+12C>A
ENST00000477052.1:n.192+12C>A
ENST00000477288.5:n.4719+12C>A
ENST00000541562.5:c.2196+12C>A	ENSP00000441000.1:n.2196+12C>A
ENST00000542001.5:c.2100+12C>A	ENSP00000438200.2:n.2100+12C>A
ENST00000625423.2:c.1686+12C>A	ENSP00000485818.1:n.1686+12C>A
NM_001167733.2:c.1686+12C>A	NP_001161205.1:n.1686+12C>A
NM_001167734.1:c.2196+12C>A	NP_001161206.1:n.2196+12C>A
NM_020442.5:c.2106+12C>A	NP_065175.4:n.2106+12C>A
NM_001167733.3:c.1686+12C>A	NP_001161205.1:n.1686+12C>A
NM_001167734.2:c.2196+12C>A	NP_001161206.1:n.2196+12C>A
NM_020442.6:c.2106+12C>A MANE Select	NP_065175.4:n.2106+12C>A