Canonical Allele Identifier: CA449779113

Gene: VARS2

Linked Data

• dbSNP Id: rs1282899602
• gnomAD v2: 6-30890895-C-T
• gnomAD v4: 6-30923118-C-T
• MyVariant Identifiers: chr6:g.30890895C>T (hg19) ; chr6:g.30923118C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923118C>T , CM000668.2:g.30923118C>T	GRCh38
NC_000006.11:g.30890895C>T , CM000668.1:g.30890895C>T	GRCh37
NC_000006.10:g.30998874C>T	NCBI36
NG_034224.1:g.13911C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2200C>T	ENSP00000441000.2:p.Leu734=
ENST00000672801.1:c.2194C>T	ENSP00000500615.1:p.Leu732=
ENST00000676266.1:c.2200C>T MANE Select	ENSP00000502585.1:p.Leu734=
ENST00000321897.9:c.2200C>T	ENSP00000316092.5:p.Leu734=
ENST00000469358.5:n.2188C>T
ENST00000476162.5:n.987C>T
ENST00000477052.1:n.286C>T
ENST00000477288.5:n.4813C>T
ENST00000541562.5:c.2290C>T	ENSP00000441000.1:p.Leu764=
ENST00000542001.5:c.2194C>T	ENSP00000438200.2:p.Leu732=
ENST00000625423.2:c.1780C>T	ENSP00000485818.1:p.Leu594=
NM_001167733.2:c.1780C>T	NP_001161205.1:p.Leu594=
NM_001167734.1:c.2290C>T	NP_001161206.1:p.Leu764=
NM_020442.5:c.2200C>T	NP_065175.4:p.Leu734=
NM_001167733.3:c.1780C>T	NP_001161205.1:p.Leu594=
NM_001167734.2:c.2290C>T	NP_001161206.1:p.Leu764=
NM_020442.6:c.2200C>T MANE Select	NP_065175.4:p.Leu734=