Canonical Allele Identifier: CA431825099

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234243650G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233335004G>T , CM000664.2:g.233335004G>T	GRCh38
NC_000002.11:g.234243650G>T , CM000664.1:g.234243650G>T	GRCh37
NC_000002.10:g.233908389G>T	NCBI36
NG_009116.1:g.32342G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.849G>T MANE Select	ENSP00000386444.1:p.Thr283=
ENST00000409110.5:c.849G>T	ENSP00000386444.1:p.Thr283=
ENST00000412969.6:n.2069G>T
ENST00000469222.5:n.866G>T
ENST00000471884.5:n.2880G>T
ENST00000473771.1:n.289G>T
ENST00000476500.5:n.6148G>T
ENST00000483231.5:n.233G>T
NM_000541.4:c.849G>T	NP_000532.2:p.Thr283=
XM_011511589.1:c.849G>T	XP_011509891.1:p.Thr283=
XM_011511590.1:c.849G>T	XP_011509892.1:p.Thr283=
XM_011511591.1:c.849G>T	XP_011509893.1:p.Thr283=
XM_011511592.1:c.693G>T	XP_011509894.1:p.Thr231=
XM_011511593.1:c.549G>T	XP_011509895.1:p.Thr183=
XM_011511594.1:c.477G>T	XP_011509896.1:p.Thr159=
XM_011511596.1:c.447G>T	XP_011509898.1:p.Thr149=
XM_011511597.1:c.447G>T	XP_011509899.1:p.Thr149=
XR_922978.1:n.1045G>T
XR_922979.1:n.1045G>T
XR_922980.1:n.1144G>T
XM_011511593.3:c.549G>T	XP_011509895.1:p.Thr183=
XM_017004641.1:c.849G>T	XP_016860130.1:p.Thr283=
XM_017004642.1:c.849G>T	XP_016860131.1:p.Thr283=
XM_024453036.1:c.447G>T	XP_024308804.1:p.Thr149=
XR_001738882.1:n.926G>T
XR_922980.2:n.1144G>T
NM_000541.5:c.849G>T MANE Select	NP_000532.2:p.Thr283=