Canonical Allele Identifier: CA363175612

Gene: VARS2

Linked Data

• MyVariant Identifiers: chr6:g.30891219G>T (hg19) ; chr6:g.30923442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923442G>T , CM000668.2:g.30923442G>T	GRCh38
NC_000006.11:g.30891219G>T , CM000668.1:g.30891219G>T	GRCh37
NC_000006.10:g.30999198G>T	NCBI36
NG_034224.1:g.14235G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2403G>T	ENSP00000441000.2:p.Glu801Asp
ENST00000672801.1:c.2397G>T	ENSP00000500615.1:p.Glu799Asp
ENST00000676266.1:c.2403G>T MANE Select	ENSP00000502585.1:p.Glu801Asp
ENST00000321897.9:c.2403G>T	ENSP00000316092.5:p.Glu801Asp
ENST00000469358.5:n.2391G>T
ENST00000473916.1:n.114G>T
ENST00000476162.5:n.1190G>T
ENST00000477052.1:n.489G>T
ENST00000477288.5:n.5016G>T
ENST00000541562.5:c.2493G>T	ENSP00000441000.1:p.Glu831Asp
ENST00000542001.5:c.2397G>T	ENSP00000438200.2:p.Glu799Asp
ENST00000625423.2:c.1983G>T	ENSP00000485818.1:p.Glu661Asp
NM_001167733.2:c.1983G>T	NP_001161205.1:p.Glu661Asp
NM_001167734.1:c.2493G>T	NP_001161206.1:p.Glu831Asp
NM_020442.5:c.2403G>T	NP_065175.4:p.Glu801Asp
NM_001167733.3:c.1983G>T	NP_001161205.1:p.Glu661Asp
NM_001167734.2:c.2493G>T	NP_001161206.1:p.Glu831Asp
NM_020442.6:c.2403G>T MANE Select	NP_065175.4:p.Glu801Asp