Canonical Allele Identifier: CA363175800

Gene: VARS2

Linked Data

• MyVariant Identifiers: chr6:g.30891257T>A (hg19) ; chr6:g.30923480T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923480T>A , CM000668.2:g.30923480T>A	GRCh38
NC_000006.11:g.30891257T>A , CM000668.1:g.30891257T>A	GRCh37
NC_000006.10:g.30999236T>A	NCBI36
NG_034224.1:g.14273T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2441T>A	ENSP00000441000.2:p.Leu814His
ENST00000672801.1:c.2435T>A	ENSP00000500615.1:p.Leu812His
ENST00000676266.1:c.2441T>A MANE Select	ENSP00000502585.1:p.Leu814His
ENST00000321897.9:c.2441T>A	ENSP00000316092.5:p.Leu814His
ENST00000469358.5:n.2429T>A
ENST00000473916.1:n.152T>A
ENST00000476162.5:n.1228T>A
ENST00000477052.1:n.527T>A
ENST00000477288.5:n.5054T>A
ENST00000541562.5:c.2531T>A	ENSP00000441000.1:p.Leu844His
ENST00000542001.5:c.2435T>A	ENSP00000438200.2:p.Leu812His
ENST00000625423.2:c.2021T>A	ENSP00000485818.1:p.Leu674His
NM_001167733.2:c.2021T>A	NP_001161205.1:p.Leu674His
NM_001167734.1:c.2531T>A	NP_001161206.1:p.Leu844His
NM_020442.5:c.2441T>A	NP_065175.4:p.Leu814His
NM_001167733.3:c.2021T>A	NP_001161205.1:p.Leu674His
NM_001167734.2:c.2531T>A	NP_001161206.1:p.Leu844His
NM_020442.6:c.2441T>A MANE Select	NP_065175.4:p.Leu814His