Canonical Allele Identifier: CA449779127

Gene: VARS2

Linked Data

• MyVariant Identifiers: chr6:g.30890912C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923135C>A , CM000668.2:g.30923135C>A	GRCh38
NC_000006.11:g.30890912C>A , CM000668.1:g.30890912C>A	GRCh37
NC_000006.10:g.30998891C>A	NCBI36
NG_034224.1:g.13928C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2217C>A	ENSP00000441000.2:p.Val739=
ENST00000672801.1:c.2211C>A	ENSP00000500615.1:p.Val737=
ENST00000676266.1:c.2217C>A MANE Select	ENSP00000502585.1:p.Val739=
ENST00000321897.9:c.2217C>A	ENSP00000316092.5:p.Val739=
ENST00000469358.5:n.2205C>A
ENST00000476162.5:n.1004C>A
ENST00000477052.1:n.303C>A
ENST00000477288.5:n.4830C>A
ENST00000541562.5:c.2307C>A	ENSP00000441000.1:p.Val769=
ENST00000542001.5:c.2211C>A	ENSP00000438200.2:p.Val737=
ENST00000625423.2:c.1797C>A	ENSP00000485818.1:p.Val599=
NM_001167733.2:c.1797C>A	NP_001161205.1:p.Val599=
NM_001167734.1:c.2307C>A	NP_001161206.1:p.Val769=
NM_020442.5:c.2217C>A	NP_065175.4:p.Val739=
NM_001167733.3:c.1797C>A	NP_001161205.1:p.Val599=
NM_001167734.2:c.2307C>A	NP_001161206.1:p.Val769=
NM_020442.6:c.2217C>A MANE Select	NP_065175.4:p.Val739=