Canonical Allele Identifier: CA449779167

Gene: VARS2

Linked Data

• MyVariant Identifiers: chr6:g.30890954T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923177T>C , CM000668.2:g.30923177T>C	GRCh38
NC_000006.11:g.30890954T>C , CM000668.1:g.30890954T>C	GRCh37
NC_000006.10:g.30998933T>C	NCBI36
NG_034224.1:g.13970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2259T>C	ENSP00000441000.2:p.Leu753=
ENST00000672801.1:c.2253T>C	ENSP00000500615.1:p.Leu751=
ENST00000676266.1:c.2259T>C MANE Select	ENSP00000502585.1:p.Leu753=
ENST00000321897.9:c.2259T>C	ENSP00000316092.5:p.Leu753=
ENST00000469358.5:n.2247T>C
ENST00000476162.5:n.1046T>C
ENST00000477052.1:n.345T>C
ENST00000477288.5:n.4872T>C
ENST00000541562.5:c.2349T>C	ENSP00000441000.1:p.Leu783=
ENST00000542001.5:c.2253T>C	ENSP00000438200.2:p.Leu751=
ENST00000625423.2:c.1839T>C	ENSP00000485818.1:p.Leu613=
NM_001167733.2:c.1839T>C	NP_001161205.1:p.Leu613=
NM_001167734.1:c.2349T>C	NP_001161206.1:p.Leu783=
NM_020442.5:c.2259T>C	NP_065175.4:p.Leu753=
NM_001167733.3:c.1839T>C	NP_001161205.1:p.Leu613=
NM_001167734.2:c.2349T>C	NP_001161206.1:p.Leu783=
NM_020442.6:c.2259T>C MANE Select	NP_065175.4:p.Leu753=