Canonical Allele Identifier: CA351050443

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255515A>T (hg19) ; chr2:g.233346869A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346869A>T , CM000664.2:g.233346869A>T	GRCh38
NC_000002.11:g.234255515A>T , CM000664.1:g.234255515A>T	GRCh37
NC_000002.10:g.233920254A>T	NCBI36
NG_009116.1:g.44207A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1175A>T MANE Select	ENSP00000386444.1:p.Glu392Val
ENST00000409110.5:c.1175A>T	ENSP00000386444.1:p.Glu392Val
ENST00000412969.6:n.2395A>T
ENST00000471884.5:n.3206A>T
ENST00000474220.5:n.381A>T
ENST00000476500.5:n.6474A>T
ENST00000492629.1:n.136A>T
NM_000541.4:c.1175A>T	NP_000532.2:p.Glu392Val
XM_011511589.1:c.1175A>T	XP_011509891.1:p.Glu392Val
XM_011511590.1:c.1175A>T	XP_011509892.1:p.Glu392Val
XM_011511591.1:c.*43A>T	XP_011509893.1:n.*43A>T
XM_011511592.1:c.1019A>T	XP_011509894.1:p.Glu340Val
XM_011511593.1:c.875A>T	XP_011509895.1:p.Glu292Val
XM_011511594.1:c.803A>T	XP_011509896.1:p.Glu268Val
XM_011511596.1:c.773A>T	XP_011509898.1:p.Glu258Val
XM_011511597.1:c.773A>T	XP_011509899.1:p.Glu258Val
XR_922978.1:n.1492A>T
XR_922980.1:n.1591A>T
XM_011511593.3:c.875A>T	XP_011509895.1:p.Glu292Val
XM_017004641.1:c.*43A>T	XP_016860130.1:n.*43A>T
XM_024453036.1:c.*43A>T	XP_024308804.1:n.*43A>T
XR_001738882.1:n.1373A>T
XR_922980.2:n.1591A>T
NM_000541.5:c.1175A>T MANE Select	NP_000532.2:p.Glu392Val