Canonical Allele Identifier: CA351050262

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255462T>G (hg19) ; chr2:g.233346816T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346816T>G , CM000664.2:g.233346816T>G	GRCh38
NC_000002.11:g.234255462T>G , CM000664.1:g.234255462T>G	GRCh37
NC_000002.10:g.233920201T>G	NCBI36
NG_009116.1:g.44154T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1122T>G MANE Select	ENSP00000386444.1:p.Asp374Glu
ENST00000409110.5:c.1122T>G	ENSP00000386444.1:p.Asp374Glu
ENST00000412969.6:n.2342T>G
ENST00000471884.5:n.3153T>G
ENST00000474220.5:n.328T>G
ENST00000476500.5:n.6421T>G
ENST00000492629.1:n.83T>G
NM_000541.4:c.1122T>G	NP_000532.2:p.Asp374Glu
XM_011511589.1:c.1122T>G	XP_011509891.1:p.Asp374Glu
XM_011511590.1:c.1122T>G	XP_011509892.1:p.Asp374Glu
XM_011511591.1:c.1112T>G	XP_011509893.1:p.Met371Arg
XM_011511592.1:c.966T>G	XP_011509894.1:p.Asp322Glu
XM_011511593.1:c.822T>G	XP_011509895.1:p.Asp274Glu
XM_011511594.1:c.750T>G	XP_011509896.1:p.Asp250Glu
XM_011511596.1:c.720T>G	XP_011509898.1:p.Asp240Glu
XM_011511597.1:c.720T>G	XP_011509899.1:p.Asp240Glu
XR_922978.1:n.1439T>G
XR_922979.1:n.1443T>G
XR_922980.1:n.1538T>G
XM_011511593.3:c.822T>G	XP_011509895.1:p.Asp274Glu
XM_017004641.1:c.1112T>G	XP_016860130.1:p.Met371Arg
XM_024453036.1:c.710T>G	XP_024308804.1:p.Met237Arg
XR_001738882.1:n.1320T>G
XR_922980.2:n.1538T>G
NM_000541.5:c.1122T>G MANE Select	NP_000532.2:p.Asp374Glu