Canonical Allele Identifier: CA351050302

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255481G>A (hg19) ; chr2:g.233346835G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346835G>A , CM000664.2:g.233346835G>A	GRCh38
NC_000002.11:g.234255481G>A , CM000664.1:g.234255481G>A	GRCh37
NC_000002.10:g.233920220G>A	NCBI36
NG_009116.1:g.44173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1141G>A MANE Select	ENSP00000386444.1:p.Glu381Lys
ENST00000409110.5:c.1141G>A	ENSP00000386444.1:p.Glu381Lys
ENST00000412969.6:n.2361G>A
ENST00000471884.5:n.3172G>A
ENST00000474220.5:n.347G>A
ENST00000476500.5:n.6440G>A
ENST00000492629.1:n.102G>A
NM_000541.4:c.1141G>A	NP_000532.2:p.Glu381Lys
XM_011511589.1:c.1141G>A	XP_011509891.1:p.Glu381Lys
XM_011511590.1:c.1141G>A	XP_011509892.1:p.Glu381Lys
XM_011511591.1:c.*9G>A	XP_011509893.1:n.*9G>A
XM_011511592.1:c.985G>A	XP_011509894.1:p.Glu329Lys
XM_011511593.1:c.841G>A	XP_011509895.1:p.Glu281Lys
XM_011511594.1:c.769G>A	XP_011509896.1:p.Glu257Lys
XM_011511596.1:c.739G>A	XP_011509898.1:p.Glu247Lys
XM_011511597.1:c.739G>A	XP_011509899.1:p.Glu247Lys
XR_922978.1:n.1458G>A
XR_922979.1:n.1462G>A
XR_922980.1:n.1557G>A
XM_011511593.3:c.841G>A	XP_011509895.1:p.Glu281Lys
XM_017004641.1:c.*9G>A	XP_016860130.1:n.*9G>A
XM_024453036.1:c.*9G>A	XP_024308804.1:n.*9G>A
XR_001738882.1:n.1339G>A
XR_922980.2:n.1557G>A
NM_000541.5:c.1141G>A MANE Select	NP_000532.2:p.Glu381Lys