Canonical Allele Identifier: CA3706001

Gene: VARS2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.30921647C>T , CM000668.2:g.30921647C>T	GRCh38
NC_000006.11:g.30889424C>T , CM000668.1:g.30889424C>T	GRCh37
NC_000006.10:g.30997403C>T	NCBI36
NG_034224.1:g.12440C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020442.6:c.1691C>T MANE Select	NP_065175.4:p.Ala564Val
ENST00000676266.1:c.1691C>T MANE Select	ENSP00000502585.1:p.Ala564Val
NM_001167733.2:c.1271C>T	NP_001161205.1:p.Ala424Val
NM_001167733.3:c.1271C>T	NP_001161205.1:p.Ala424Val
NM_001167734.1:c.1781C>T	NP_001161206.1:p.Ala594Val
NM_001167734.2:c.1781C>T	NP_001161206.1:p.Ala594Val
NM_020442.5:c.1691C>T	NP_065175.4:p.Ala564Val
ENST00000321897.9:c.1691C>T	ENSP00000316092.5:p.Ala564Val
ENST00000469358.5:n.1611C>T
ENST00000476162.5:n.549C>T
ENST00000477288.5:n.4304C>T
ENST00000541562.5:c.1781C>T	ENSP00000441000.1:p.Ala594Val
ENST00000541562.6:c.1691C>T	ENSP00000441000.2:p.Ala564Val
ENST00000542001.5:c.1685C>T	ENSP00000438200.2:p.Ala562Val
ENST00000625423.2:c.1271C>T	ENSP00000485818.1:p.Ala424Val
ENST00000672801.1:c.1685C>T	ENSP00000500615.1:p.Ala562Val