Canonical Allele Identifier: CA2362303948

Gene: SAMHD1 TLDC2

Linked Data

• ClinVar Variation Id: 2816002
• ClinVar RCV Id: RCV003610220
• dbSNP Id: rs1601108593

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36893074G>C , CM000682.2:g.36893074G>C	GRCh38
NC_000020.10:g.35521477G>C , CM000682.1:g.35521477G>C	GRCh37
NC_000020.9:g.34954891G>C	NCBI36
NG_017059.1:g.63770C>G , LRG_281:g.63770C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644114.2:c.1514-8C>G (SAMHD1)	ENSP00000494354.2:n.1514-8C>G
ENST00000644250.2:c.1642-8C>G (SAMHD1)	ENSP00000493810.2:n.1642-8C>G
ENST00000682773.1:c.1747-8C>G (SAMHD1)	ENSP00000507178.1:n.1747-8C>G
ENST00000683720.1:c.1785-8C>G (SAMHD1)	ENSP00000508219.1:n.1785-8C>G
ENST00000683766.1:c.1747-8C>G (SAMHD1)	ENSP00000506877.1:n.1747-8C>G
ENST00000217320.8:c.*230G>C (TLDC2) MANE Select	ENSP00000217320.3:n.*230G>C
ENST00000262878.5:c.1642-8C>G (SAMHD1)	ENSP00000262878.5:n.1642-8C>G
ENST00000642186.1:c.*2051-8C>G (SAMHD1)	ENSP00000494436.1:n.*2051-8C>G
ENST00000642246.1:c.*1426-8C>G (SAMHD1)	ENSP00000494979.1:n.*1426-8C>G
ENST00000643918.1:c.*832C>G (SAMHD1)	ENSP00000493928.1:n.*832C>G
ENST00000644114.1:c.1440-8C>G (SAMHD1)
ENST00000645033.1:c.*924-8C>G (SAMHD1)	ENSP00000494520.1:n.*924-8C>G
ENST00000646066.1:c.1537-8C>G (SAMHD1)	ENSP00000495432.1:n.1537-8C>G
ENST00000646673.2:c.1747-8C>G (SAMHD1) MANE Select	ENSP00000493536.2:n.1747-8C>G
ENST00000646869.1:c.1747-8C>G (SAMHD1)	ENSP00000495667.1:n.1747-8C>G
ENST00000646904.1:c.*953-8C>G (SAMHD1)	ENSP00000494823.1:n.*953-8C>G
ENST00000647095.1:n.2945-8C>G (SAMHD1)
ENST00000647163.1:c.*924-8C>G (SAMHD1)	ENSP00000494313.1:n.*924-8C>G
ENST00000647459.1:n.2796-8C>G (SAMHD1)
ENST00000217320.7:c.*230G>C (TLDC2)	ENSP00000217320.3:n.*230G>C
ENST00000262878.4:c.1747-8C>G (SAMHD1)	ENSP00000262878.4:n.1747-8C>G
ENST00000436941.1:c.287G>C (TLDC2)	ENSP00000394804.1:n.287G>C
NM_001304783.1:c.*230G>C (TLDC2)	NP_001291712.1:n.*230G>C
NM_015474.3:c.1747-8C>G , LRG_281t1:c.1747-8C>G (SAMHD1)	NP_056289.2:n.1747-8C>G
NM_080628.2:c.*230G>C (TLDC2)	NP_542195.1:n.*230G>C
XM_005260384.2:c.1642-8C>G (SAMHD1)	XP_005260441.1:n.1642-8C>G
NM_001363729.1:c.1642-8C>G (SAMHD1)	NP_001350658.1:n.1642-8C>G
NM_001363733.1:c.*832C>G (SAMHD1)	NP_001350662.1:n.*832C>G
NM_080628.3:c.*230G>C (TLDC2) MANE Select	NP_542195.1:n.*230G>C
NM_001363729.2:c.1642-8C>G (SAMHD1)	NP_001350658.1:n.1642-8C>G
NM_001363733.2:c.*832C>G (SAMHD1)	NP_001350662.1:n.*832C>G
NM_015474.4:c.1747-8C>G (SAMHD1) MANE Select	NP_056289.2:n.1747-8C>G