Canonical Allele Identifier: CA431825574

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255474T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346828T>A , CM000664.2:g.233346828T>A	GRCh38
NC_000002.11:g.234255474T>A , CM000664.1:g.234255474T>A	GRCh37
NC_000002.10:g.233920213T>A	NCBI36
NG_009116.1:g.44166T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1134T>A MANE Select	ENSP00000386444.1:p.Val378=
ENST00000409110.5:c.1134T>A	ENSP00000386444.1:p.Val378=
ENST00000412969.6:n.2354T>A
ENST00000471884.5:n.3165T>A
ENST00000474220.5:n.340T>A
ENST00000476500.5:n.6433T>A
ENST00000492629.1:n.95T>A
NM_000541.4:c.1134T>A	NP_000532.2:p.Val378=
XM_011511589.1:c.1134T>A	XP_011509891.1:p.Val378=
XM_011511590.1:c.1134T>A	XP_011509892.1:p.Val378=
XM_011511591.1:c.*2T>A	XP_011509893.1:n.*2T>A
XM_011511592.1:c.978T>A	XP_011509894.1:p.Val326=
XM_011511593.1:c.834T>A	XP_011509895.1:p.Val278=
XM_011511594.1:c.762T>A	XP_011509896.1:p.Val254=
XM_011511596.1:c.732T>A	XP_011509898.1:p.Val244=
XM_011511597.1:c.732T>A	XP_011509899.1:p.Val244=
XR_922978.1:n.1451T>A
XR_922979.1:n.1455T>A
XR_922980.1:n.1550T>A
XM_011511593.3:c.834T>A	XP_011509895.1:p.Val278=
XM_017004641.1:c.*2T>A	XP_016860130.1:n.*2T>A
XM_024453036.1:c.*2T>A	XP_024308804.1:n.*2T>A
XR_001738882.1:n.1332T>A
XR_922980.2:n.1550T>A
NM_000541.5:c.1134T>A MANE Select	NP_000532.2:p.Val378=