Canonical Allele Identifier: CA351048573

Gene: SAG

Linked Data

• dbSNP Id: rs1700882212
• MyVariant Identifiers: chr2:g.234243740C>A (hg19) ; chr2:g.233335094C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233335094C>A , CM000664.2:g.233335094C>A	GRCh38
NC_000002.11:g.234243740C>A , CM000664.1:g.234243740C>A	GRCh37
NC_000002.10:g.233908479C>A	NCBI36
NG_009116.1:g.32432C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409110.6:c.939C>A MANE Select	ENSP00000386444.1:p.Ser313Arg
ENST00000409110.5:c.939C>A	ENSP00000386444.1:p.Ser313Arg
ENST00000412969.6:n.2159C>A
ENST00000469222.5:n.956C>A
ENST00000471884.5:n.2970C>A
ENST00000473771.1:n.379C>A
ENST00000476500.5:n.6238C>A
ENST00000483231.5:n.323C>A
NM_000541.4:c.939C>A	NP_000532.2:p.Ser313Arg
XM_011511589.1:c.939C>A	XP_011509891.1:p.Ser313Arg
XM_011511590.1:c.939C>A	XP_011509892.1:p.Ser313Arg
XM_011511591.1:c.939C>A	XP_011509893.1:p.Ser313Arg
XM_011511592.1:c.783C>A	XP_011509894.1:p.Ser261Arg
XM_011511593.1:c.639C>A	XP_011509895.1:p.Ser213Arg
XM_011511594.1:c.567C>A	XP_011509896.1:p.Ser189Arg
XM_011511596.1:c.537C>A	XP_011509898.1:p.Ser179Arg
XM_011511597.1:c.537C>A	XP_011509899.1:p.Ser179Arg
XR_922978.1:n.1135C>A
XR_922979.1:n.1135C>A
XR_922980.1:n.1234C>A
XM_011511593.3:c.639C>A	XP_011509895.1:p.Ser213Arg
XM_017004641.1:c.939C>A	XP_016860130.1:p.Ser313Arg
XM_017004642.1:c.939C>A	XP_016860131.1:p.Ser313Arg
XM_024453036.1:c.537C>A	XP_024308804.1:p.Ser179Arg
XR_001738882.1:n.1016C>A
XR_922980.2:n.1234C>A
NM_000541.5:c.939C>A MANE Select	NP_000532.2:p.Ser313Arg