Canonical Allele Identifier: CA351050299

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255479A>T (hg19) ; chr2:g.233346833A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346833A>T , CM000664.2:g.233346833A>T	GRCh38
NC_000002.11:g.234255479A>T , CM000664.1:g.234255479A>T	GRCh37
NC_000002.10:g.233920218A>T	NCBI36
NG_009116.1:g.44171A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1139A>T MANE Select	ENSP00000386444.1:p.Glu380Val
ENST00000409110.5:c.1139A>T	ENSP00000386444.1:p.Glu380Val
ENST00000412969.6:n.2359A>T
ENST00000471884.5:n.3170A>T
ENST00000474220.5:n.345A>T
ENST00000476500.5:n.6438A>T
ENST00000492629.1:n.100A>T
NM_000541.4:c.1139A>T	NP_000532.2:p.Glu380Val
XM_011511589.1:c.1139A>T	XP_011509891.1:p.Glu380Val
XM_011511590.1:c.1139A>T	XP_011509892.1:p.Glu380Val
XM_011511591.1:c.*7A>T	XP_011509893.1:n.*7A>T
XM_011511592.1:c.983A>T	XP_011509894.1:p.Glu328Val
XM_011511593.1:c.839A>T	XP_011509895.1:p.Glu280Val
XM_011511594.1:c.767A>T	XP_011509896.1:p.Glu256Val
XM_011511596.1:c.737A>T	XP_011509898.1:p.Glu246Val
XM_011511597.1:c.737A>T	XP_011509899.1:p.Glu246Val
XR_922978.1:n.1456A>T
XR_922979.1:n.1460A>T
XR_922980.1:n.1555A>T
XM_011511593.3:c.839A>T	XP_011509895.1:p.Glu280Val
XM_017004641.1:c.*7A>T	XP_016860130.1:n.*7A>T
XM_024453036.1:c.*7A>T	XP_024308804.1:n.*7A>T
XR_001738882.1:n.1337A>T
XR_922980.2:n.1555A>T
NM_000541.5:c.1139A>T MANE Select	NP_000532.2:p.Glu380Val