Canonical Allele Identifier: CA431825231

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234243740C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.939C>T MANE Select	ENSP00000386444.1:p.Ser313=
ENST00000409110.5:c.939C>T	ENSP00000386444.1:p.Ser313=
ENST00000412969.6:n.2159C>T
ENST00000469222.5:n.956C>T
ENST00000471884.5:n.2970C>T
ENST00000473771.1:n.379C>T
ENST00000476500.5:n.6238C>T
ENST00000483231.5:n.323C>T
NM_000541.4:c.939C>T	NP_000532.2:p.Ser313=
XM_011511589.1:c.939C>T	XP_011509891.1:p.Ser313=
XM_011511590.1:c.939C>T	XP_011509892.1:p.Ser313=
XM_011511591.1:c.939C>T	XP_011509893.1:p.Ser313=
XM_011511592.1:c.783C>T	XP_011509894.1:p.Ser261=
XM_011511593.1:c.639C>T	XP_011509895.1:p.Ser213=
XM_011511594.1:c.567C>T	XP_011509896.1:p.Ser189=
XM_011511596.1:c.537C>T	XP_011509898.1:p.Ser179=
XM_011511597.1:c.537C>T	XP_011509899.1:p.Ser179=
XR_922978.1:n.1135C>T
XR_922979.1:n.1135C>T
XR_922980.1:n.1234C>T
XM_011511593.3:c.639C>T	XP_011509895.1:p.Ser213=
XM_017004641.1:c.939C>T	XP_016860130.1:p.Ser313=
XM_017004642.1:c.939C>T	XP_016860131.1:p.Ser313=
XM_024453036.1:c.537C>T	XP_024308804.1:p.Ser179=
XR_001738882.1:n.1016C>T
XR_922980.2:n.1234C>T
NM_000541.5:c.939C>T MANE Select	NP_000532.2:p.Ser313=