Canonical Allele Identifier: CA3706254

Gene: VARS2

Linked Data

• ClinVar Variation Id: 1941227
• ClinVar RCV Id: RCV002643037
• dbSNP Id: rs762324080
• ExAC: 6:30891199 C / T
• gnomAD v2: 6-30891199-C-T
• gnomAD v4: 6-30923422-C-T
• MyVariant Identifiers: chr6:g.30891199C>T (hg19) ; chr6:g.30923422C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923422C>T , CM000668.2:g.30923422C>T	GRCh38
NC_000006.11:g.30891199C>T , CM000668.1:g.30891199C>T	GRCh37
NC_000006.10:g.30999178C>T	NCBI36
NG_034224.1:g.14215C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2383C>T	ENSP00000441000.2:p.Arg795Trp
ENST00000672801.1:c.2377C>T	ENSP00000500615.1:p.Arg793Trp
ENST00000676266.1:c.2383C>T MANE Select	ENSP00000502585.1:p.Arg795Trp
ENST00000321897.9:c.2383C>T	ENSP00000316092.5:p.Arg795Trp
ENST00000469358.5:n.2371C>T
ENST00000473916.1:n.94C>T
ENST00000476162.5:n.1170C>T
ENST00000477052.1:n.469C>T
ENST00000477288.5:n.4996C>T
ENST00000541562.5:c.2473C>T	ENSP00000441000.1:p.Arg825Trp
ENST00000542001.5:c.2377C>T	ENSP00000438200.2:p.Arg793Trp
ENST00000625423.2:c.1963C>T	ENSP00000485818.1:p.Arg655Trp
NM_001167733.2:c.1963C>T	NP_001161205.1:p.Arg655Trp
NM_001167734.1:c.2473C>T	NP_001161206.1:p.Arg825Trp
NM_020442.5:c.2383C>T	NP_065175.4:p.Arg795Trp
NM_001167733.3:c.1963C>T	NP_001161205.1:p.Arg655Trp
NM_001167734.2:c.2473C>T	NP_001161206.1:p.Arg825Trp
NM_020442.6:c.2383C>T MANE Select	NP_065175.4:p.Arg795Trp