Canonical Allele Identifier: CA2513203211

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2164497
• ClinVar RCV Id: RCV003082133

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594850A>G , CM000667.2:g.132594850A>G	GRCh38
NC_000005.9:g.131930542A>G , CM000667.1:g.131930542A>G	GRCh37
NC_000005.8:g.131958441A>G	NCBI36
NG_021151.1:g.42927A>G
NG_021151.2:g.42874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1794-19A>G MANE Select	ENSP00000368100.4:n.1794-19A>G
ENST00000638452.2:c.1497-19A>G	ENSP00000492349.2:n.1497-19A>G
ENST00000638504.1:n.1480-254A>G
ENST00000638568.2:c.1497-19A>G	ENSP00000491158.2:n.1497-19A>G
ENST00000639899.1:n.2313-19A>G
ENST00000640655.2:c.1497-19A>G	ENSP00000491596.2:n.1497-19A>G
ENST00000651160.1:c.*16-254A>G	ENSP00000498829.1:n.*16-254A>G
ENST00000651658.1:n.2337-19A>G
ENST00000651723.1:c.*1877-19A>G	ENSP00000498237.1:n.*1877-19A>G
ENST00000652016.1:c.*88+173A>G	ENSP00000498267.1:n.*88+173A>G
ENST00000652485.1:c.1827-19A>G	ENSP00000498973.1:n.1827-19A>G
ENST00000378823.7:c.1794-19A>G	ENSP00000368100.4:n.1794-19A>G
ENST00000423956.5:c.1636-19A>G	ENSP00000390971.1:n.1636-19A>G
ENST00000453394.5:c.1611-19A>G	ENSP00000400049.1:n.1611-19A>G
ENST00000533482.5:c.*1420-19A>G	ENSP00000431225.1:n.*1420-19A>G
NM_005732.3:c.1794-19A>G	NP_005723.2:n.1794-19A>G
NM_005732.4:c.1794-19A>G MANE Select	NP_005723.2:n.1794-19A>G