Canonical Allele Identifier: CA351048565

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234243736C>A (hg19) ; chr2:g.233335090C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233335090C>A , CM000664.2:g.233335090C>A	GRCh38
NC_000002.11:g.234243736C>A , CM000664.1:g.234243736C>A	GRCh37
NC_000002.10:g.233908475C>A	NCBI36
NG_009116.1:g.32428C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.935C>A MANE Select	ENSP00000386444.1:p.Ser312Tyr
ENST00000409110.5:c.935C>A	ENSP00000386444.1:p.Ser312Tyr
ENST00000412969.6:n.2155C>A
ENST00000469222.5:n.952C>A
ENST00000471884.5:n.2966C>A
ENST00000473771.1:n.375C>A
ENST00000476500.5:n.6234C>A
ENST00000483231.5:n.319C>A
NM_000541.4:c.935C>A	NP_000532.2:p.Ser312Tyr
XM_011511589.1:c.935C>A	XP_011509891.1:p.Ser312Tyr
XM_011511590.1:c.935C>A	XP_011509892.1:p.Ser312Tyr
XM_011511591.1:c.935C>A	XP_011509893.1:p.Ser312Tyr
XM_011511592.1:c.779C>A	XP_011509894.1:p.Ser260Tyr
XM_011511593.1:c.635C>A	XP_011509895.1:p.Ser212Tyr
XM_011511594.1:c.563C>A	XP_011509896.1:p.Ser188Tyr
XM_011511596.1:c.533C>A	XP_011509898.1:p.Ser178Tyr
XM_011511597.1:c.533C>A	XP_011509899.1:p.Ser178Tyr
XR_922978.1:n.1131C>A
XR_922979.1:n.1131C>A
XR_922980.1:n.1230C>A
XM_011511593.3:c.635C>A	XP_011509895.1:p.Ser212Tyr
XM_017004641.1:c.935C>A	XP_016860130.1:p.Ser312Tyr
XM_017004642.1:c.935C>A	XP_016860131.1:p.Ser312Tyr
XM_024453036.1:c.533C>A	XP_024308804.1:p.Ser178Tyr
XR_001738882.1:n.1012C>A
XR_922980.2:n.1230C>A
NM_000541.5:c.935C>A MANE Select	NP_000532.2:p.Ser312Tyr