Canonical Allele Identifier: CA431825627

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255519T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346873T>G , CM000664.2:g.233346873T>G	GRCh38
NC_000002.11:g.234255519T>G , CM000664.1:g.234255519T>G	GRCh37
NC_000002.10:g.233920258T>G	NCBI36
NG_009116.1:g.44211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1179T>G MANE Select	ENSP00000386444.1:p.Ala393=
ENST00000409110.5:c.1179T>G	ENSP00000386444.1:p.Ala393=
ENST00000412969.6:n.2399T>G
ENST00000471884.5:n.3210T>G
ENST00000474220.5:n.385T>G
ENST00000476500.5:n.6478T>G
ENST00000492629.1:n.140T>G
NM_000541.4:c.1179T>G	NP_000532.2:p.Ala393=
XM_011511589.1:c.1179T>G	XP_011509891.1:p.Ala393=
XM_011511590.1:c.1179T>G	XP_011509892.1:p.Ala393=
XM_011511591.1:c.*47T>G	XP_011509893.1:n.*47T>G
XM_011511592.1:c.1023T>G	XP_011509894.1:p.Ala341=
XM_011511593.1:c.879T>G	XP_011509895.1:p.Ala293=
XM_011511594.1:c.807T>G	XP_011509896.1:p.Ala269=
XM_011511596.1:c.777T>G	XP_011509898.1:p.Ala259=
XM_011511597.1:c.777T>G	XP_011509899.1:p.Ala259=
XR_922978.1:n.1496T>G
XR_922980.1:n.1595T>G
XM_011511593.3:c.879T>G	XP_011509895.1:p.Ala293=
XM_017004641.1:c.*47T>G	XP_016860130.1:n.*47T>G
XM_024453036.1:c.*47T>G	XP_024308804.1:n.*47T>G
XR_001738882.1:n.1377T>G
XR_922980.2:n.1595T>G
NM_000541.5:c.1179T>G MANE Select	NP_000532.2:p.Ala393=