Canonical Allele Identifier: CA3706265

Gene: VARS2

Linked Data

• dbSNP Id: rs749951301
• ExAC: 6:30891246 C / T
• gnomAD v2: 6-30891246-C-T
• gnomAD v4: 6-30923469-C-T
• MyVariant Identifiers: chr6:g.30891246C>T (hg19) ; chr6:g.30923469C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923469C>T , CM000668.2:g.30923469C>T	GRCh38
NC_000006.11:g.30891246C>T , CM000668.1:g.30891246C>T	GRCh37
NC_000006.10:g.30999225C>T	NCBI36
NG_034224.1:g.14262C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2430C>T	ENSP00000441000.2:p.His810=
ENST00000672801.1:c.2424C>T	ENSP00000500615.1:p.His808=
ENST00000676266.1:c.2430C>T MANE Select	ENSP00000502585.1:p.His810=
ENST00000321897.9:c.2430C>T	ENSP00000316092.5:p.His810=
ENST00000469358.5:n.2418C>T
ENST00000473916.1:n.141C>T
ENST00000476162.5:n.1217C>T
ENST00000477052.1:n.516C>T
ENST00000477288.5:n.5043C>T
ENST00000541562.5:c.2520C>T	ENSP00000441000.1:p.His840=
ENST00000542001.5:c.2424C>T	ENSP00000438200.2:p.His808=
ENST00000625423.2:c.2010C>T	ENSP00000485818.1:p.His670=
NM_001167733.2:c.2010C>T	NP_001161205.1:p.His670=
NM_001167734.1:c.2520C>T	NP_001161206.1:p.His840=
NM_020442.5:c.2430C>T	NP_065175.4:p.His810=
NM_001167733.3:c.2010C>T	NP_001161205.1:p.His670=
NM_001167734.2:c.2520C>T	NP_001161206.1:p.His840=
NM_020442.6:c.2430C>T MANE Select	NP_065175.4:p.His810=