Canonical Allele Identifier: CA351050346

Gene: SAG

Linked Data

• COSMIC: COSM4460115 ; COSM4460116
• MyVariant Identifiers: chr2:g.234255493C>T (hg19) ; chr2:g.233346847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233346847C>T , CM000664.2:g.233346847C>T	GRCh38
NC_000002.11:g.234255493C>T , CM000664.1:g.234255493C>T	GRCh37
NC_000002.10:g.233920232C>T	NCBI36
NG_009116.1:g.44185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.1153C>T MANE Select	ENSP00000386444.1:p.His385Tyr
ENST00000409110.5:c.1153C>T	ENSP00000386444.1:p.His385Tyr
ENST00000412969.6:n.2373C>T
ENST00000471884.5:n.3184C>T
ENST00000474220.5:n.359C>T
ENST00000476500.5:n.6452C>T
ENST00000492629.1:n.114C>T
NM_000541.4:c.1153C>T	NP_000532.2:p.His385Tyr
XM_011511589.1:c.1153C>T	XP_011509891.1:p.His385Tyr
XM_011511590.1:c.1153C>T	XP_011509892.1:p.His385Tyr
XM_011511591.1:c.*21C>T	XP_011509893.1:n.*21C>T
XM_011511592.1:c.997C>T	XP_011509894.1:p.His333Tyr
XM_011511593.1:c.853C>T	XP_011509895.1:p.His285Tyr
XM_011511594.1:c.781C>T	XP_011509896.1:p.His261Tyr
XM_011511596.1:c.751C>T	XP_011509898.1:p.His251Tyr
XM_011511597.1:c.751C>T	XP_011509899.1:p.His251Tyr
XR_922978.1:n.1470C>T
XR_922979.1:n.1474C>T
XR_922980.1:n.1569C>T
XM_011511593.3:c.853C>T	XP_011509895.1:p.His285Tyr
XM_017004641.1:c.*21C>T	XP_016860130.1:n.*21C>T
XM_024453036.1:c.*21C>T	XP_024308804.1:n.*21C>T
XR_001738882.1:n.1351C>T
XR_922980.2:n.1569C>T
NM_000541.5:c.1153C>T MANE Select	NP_000532.2:p.His385Tyr