Canonical Allele Identifier: CA363175361

Gene: VARS2

Linked Data

• MyVariant Identifiers: chr6:g.30891145C>A (hg19) ; chr6:g.30923368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30923368C>A , CM000668.2:g.30923368C>A	GRCh38
NC_000006.11:g.30891145C>A , CM000668.1:g.30891145C>A	GRCh37
NC_000006.10:g.30999124C>A	NCBI36
NG_034224.1:g.14161C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541562.6:c.2329C>A	ENSP00000441000.2:p.Pro777Thr
ENST00000672801.1:c.2323C>A	ENSP00000500615.1:p.Pro775Thr
ENST00000676266.1:c.2329C>A MANE Select	ENSP00000502585.1:p.Pro777Thr
ENST00000321897.9:c.2329C>A	ENSP00000316092.5:p.Pro777Thr
ENST00000469358.5:n.2317C>A
ENST00000473916.1:n.40C>A
ENST00000476162.5:n.1116C>A
ENST00000477052.1:n.415C>A
ENST00000477288.5:n.4942C>A
ENST00000541562.5:c.2419C>A	ENSP00000441000.1:p.Pro807Thr
ENST00000542001.5:c.2323C>A	ENSP00000438200.2:p.Pro775Thr
ENST00000625423.2:c.1909C>A	ENSP00000485818.1:p.Pro637Thr
NM_001167733.2:c.1909C>A	NP_001161205.1:p.Pro637Thr
NM_001167734.1:c.2419C>A	NP_001161206.1:p.Pro807Thr
NM_020442.5:c.2329C>A	NP_065175.4:p.Pro777Thr
NM_001167733.3:c.1909C>A	NP_001161205.1:p.Pro637Thr
NM_001167734.2:c.2419C>A	NP_001161206.1:p.Pro807Thr
NM_020442.6:c.2329C>A MANE Select	NP_065175.4:p.Pro777Thr