Canonical Allele Identifier: CA449586518

Gene: VARS2

Linked Data

• gnomAD v4: 6-30923466-G-T
• MyVariant Identifiers: chr6:g.30891243G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923466G>T , CM000668.2:g.30923466G>T	GRCh38
NC_000006.11:g.30891243G>T , CM000668.1:g.30891243G>T	GRCh37
NC_000006.10:g.30999222G>T	NCBI36
NG_034224.1:g.14259G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2427G>T	ENSP00000441000.2:p.Leu809=
ENST00000672801.1:c.2421G>T	ENSP00000500615.1:p.Leu807=
ENST00000676266.1:c.2427G>T MANE Select	ENSP00000502585.1:p.Leu809=
ENST00000321897.9:c.2427G>T	ENSP00000316092.5:p.Leu809=
ENST00000469358.5:n.2415G>T
ENST00000473916.1:n.138G>T
ENST00000476162.5:n.1214G>T
ENST00000477052.1:n.513G>T
ENST00000477288.5:n.5040G>T
ENST00000541562.5:c.2517G>T	ENSP00000441000.1:p.Leu839=
ENST00000542001.5:c.2421G>T	ENSP00000438200.2:p.Leu807=
ENST00000625423.2:c.2007G>T	ENSP00000485818.1:p.Leu669=
NM_001167733.2:c.2007G>T	NP_001161205.1:p.Leu669=
NM_001167734.1:c.2517G>T	NP_001161206.1:p.Leu839=
NM_020442.5:c.2427G>T	NP_065175.4:p.Leu809=
NM_001167733.3:c.2007G>T	NP_001161205.1:p.Leu669=
NM_001167734.2:c.2517G>T	NP_001161206.1:p.Leu839=
NM_020442.6:c.2427G>T MANE Select	NP_065175.4:p.Leu809=