Canonical Allele Identifier: CA351043938

Gene: SAG

Linked Data

• ClinVar Variation Id: 444552
• ClinVar RCV Id: RCV000512775 ; RCV001199777
• dbSNP Id: rs1233480483
• MyVariant Identifiers: chr2:g.234224783T>G (hg19) ; chr2:g.233316137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233316137T>G , CM000664.2:g.233316137T>G	GRCh38
NC_000002.11:g.234224783T>G , CM000664.1:g.234224783T>G	GRCh37
NC_000002.10:g.233889522T>G	NCBI36
NG_009116.1:g.13475T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409110.6:c.136+2T>G MANE Select	ENSP00000386444.1:n.136+2T>G
ENST00000409110.5:c.136+2T>G	ENSP00000386444.1:n.136+2T>G
ENST00000412969.6:n.270+2T>G
ENST00000415974.1:c.136+2T>G	ENSP00000409475.1:n.136+2T>G
ENST00000447536.5:c.136+2T>G	ENSP00000408937.1:n.136+2T>G
ENST00000453143.5:c.76-2614T>G	ENSP00000404733.1:n.76-2614T>G
ENST00000462487.5:n.205+2T>G
ENST00000471884.5:n.307+2T>G
ENST00000474206.1:n.46+2T>G
ENST00000476500.5:n.371+2T>G
ENST00000479450.1:n.140-6809T>G
NM_000541.4:c.136+2T>G	NP_000532.2:n.136+2T>G
XM_011511589.1:c.136+2T>G	XP_011509891.1:n.136+2T>G
XM_011511590.1:c.136+2T>G	XP_011509892.1:n.136+2T>G
XM_011511591.1:c.136+2T>G	XP_011509893.1:n.136+2T>G
XM_011511595.1:c.136+2T>G	XP_011509897.1:n.136+2T>G
XM_011511597.1:c.-73+2T>G	XP_011509899.1:n.-73+2T>G
XR_922978.1:n.332+2T>G
XR_922979.1:n.332+2T>G
XM_017004641.1:c.136+2T>G	XP_016860130.1:n.136+2T>G
XM_017004642.1:c.136+2T>G	XP_016860131.1:n.136+2T>G
XM_017004643.1:c.136+2T>G	XP_016860132.1:n.136+2T>G
XM_024453036.1:c.-267+2T>G	XP_024308804.1:n.-267+2T>G
XR_001738882.1:n.213+2T>G
NM_000541.5:c.136+2T>G MANE Select	NP_000532.2:n.136+2T>G