Canonical Allele Identifier: CA2697546473

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2765728
• ClinVar RCV Id: RCV003584357

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557466T>G , CM000667.2:g.132557466T>G	GRCh38
NC_000005.9:g.131893158T>G , CM000667.1:g.131893158T>G	GRCh37
NC_000005.8:g.131921057T>G	NCBI36
NG_021151.1:g.5543T>G
NG_021151.2:g.5490T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.129+13T>G MANE Select	ENSP00000368100.4:n.129+13T>G
ENST00000638452.2:c.-168-1818T>G	ENSP00000492349.2:n.-168-1818T>G
ENST00000638504.1:n.207-1818T>G
ENST00000638568.2:c.-169+993T>G	ENSP00000491158.2:n.-169+993T>G
ENST00000639899.1:n.290-1818T>G
ENST00000640655.2:c.-168-1818T>G	ENSP00000491596.2:n.-168-1818T>G
ENST00000651160.1:c.129+13T>G	ENSP00000498829.1:n.129+13T>G
ENST00000651541.1:c.-169+457T>G	ENSP00000498795.1:n.-169+457T>G
ENST00000651658.1:n.197+13T>G
ENST00000651723.1:c.142T>G	ENSP00000498237.1:p.Ter48Glu
ENST00000652016.1:c.129+13T>G	ENSP00000498267.1:n.129+13T>G
ENST00000652485.1:c.129+13T>G	ENSP00000498973.1:n.129+13T>G
ENST00000378823.7:c.129+13T>G	ENSP00000368100.4:n.129+13T>G
ENST00000416135.5:c.-169+993T>G	ENSP00000389515.1:n.-169+993T>G
ENST00000423956.5:c.129+13T>G	ENSP00000390971.1:n.129+13T>G
ENST00000453394.5:c.129+13T>G	ENSP00000400049.1:n.129+13T>G
ENST00000533482.5:c.129+13T>G	ENSP00000431225.1:n.129+13T>G
NM_005732.3:c.129+13T>G	NP_005723.2:n.129+13T>G
NM_005732.4:c.129+13T>G MANE Select	NP_005723.2:n.129+13T>G