Canonical Allele Identifier: CA449779229

Gene: VARS2

Linked Data

• gnomAD v4: 6-30922927-G-A
• MyVariant Identifiers: chr6:g.30890704G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30922927G>A , CM000668.2:g.30922927G>A	GRCh38
NC_000006.11:g.30890704G>A , CM000668.1:g.30890704G>A	GRCh37
NC_000006.10:g.30998683G>A	NCBI36
NG_034224.1:g.13720G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2136G>A	ENSP00000441000.2:p.Glu712=
ENST00000672801.1:c.2130G>A	ENSP00000500615.1:p.Glu710=
ENST00000676266.1:c.2136G>A MANE Select	ENSP00000502585.1:p.Glu712=
ENST00000321897.9:c.2136G>A	ENSP00000316092.5:p.Glu712=
ENST00000469358.5:n.2124G>A
ENST00000476162.5:n.923G>A
ENST00000477052.1:n.222G>A
ENST00000477288.5:n.4749G>A
ENST00000541562.5:c.2226G>A	ENSP00000441000.1:p.Glu742=
ENST00000542001.5:c.2130G>A	ENSP00000438200.2:p.Glu710=
ENST00000625423.2:c.1716G>A	ENSP00000485818.1:p.Glu572=
NM_001167733.2:c.1716G>A	NP_001161205.1:p.Glu572=
NM_001167734.1:c.2226G>A	NP_001161206.1:p.Glu742=
NM_020442.5:c.2136G>A	NP_065175.4:p.Glu712=
NM_001167733.3:c.1716G>A	NP_001161205.1:p.Glu572=
NM_001167734.2:c.2226G>A	NP_001161206.1:p.Glu742=
NM_020442.6:c.2136G>A MANE Select	NP_065175.4:p.Glu712=