Canonical Allele Identifier: CA431825641

Gene: SAG

Linked Data

• MyVariant Identifiers: chr2:g.234255537C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346891C>T , CM000664.2:g.233346891C>T	GRCh38
NC_000002.11:g.234255537C>T , CM000664.1:g.234255537C>T	GRCh37
NC_000002.10:g.233920276C>T	NCBI36
NG_009116.1:g.44229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1197C>T MANE Select	ENSP00000386444.1:p.Asp399=
ENST00000409110.5:c.1197C>T	ENSP00000386444.1:p.Asp399=
ENST00000412969.6:n.2417C>T
ENST00000471884.5:n.3228C>T
ENST00000474220.5:n.403C>T
ENST00000476500.5:n.6496C>T
ENST00000492629.1:n.158C>T
NM_000541.4:c.1197C>T	NP_000532.2:p.Asp399=
XM_011511589.1:c.1197C>T	XP_011509891.1:p.Asp399=
XM_011511590.1:c.1197C>T	XP_011509892.1:p.Asp399=
XM_011511591.1:c.*65C>T	XP_011509893.1:n.*65C>T
XM_011511592.1:c.1041C>T	XP_011509894.1:p.Asp347=
XM_011511593.1:c.897C>T	XP_011509895.1:p.Asp299=
XM_011511594.1:c.825C>T	XP_011509896.1:p.Asp275=
XM_011511596.1:c.795C>T	XP_011509898.1:p.Asp265=
XM_011511597.1:c.795C>T	XP_011509899.1:p.Asp265=
XR_922978.1:n.1514C>T
XR_922980.1:n.1613C>T
XM_011511593.3:c.897C>T	XP_011509895.1:p.Asp299=
XM_017004641.1:c.*65C>T	XP_016860130.1:n.*65C>T
XM_024453036.1:c.*65C>T	XP_024308804.1:n.*65C>T
XR_001738882.1:n.1395C>T
XR_922980.2:n.1613C>T
NM_000541.5:c.1197C>T MANE Select	NP_000532.2:p.Asp399=