Canonical Allele Identifier: CA2573139011

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1549189
• ClinVar RCV Id: RCV002189328
• dbSNP Id: rs2149843811
• gnomAD v4: 5-132595061-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595061A>G , CM000667.2:g.132595061A>G	GRCh38
NC_000005.9:g.131930753A>G , CM000667.1:g.131930753A>G	GRCh37
NC_000005.8:g.131958652A>G	NCBI36
NG_021151.1:g.43138A>G
NG_021151.2:g.43085A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1969+17A>G MANE Select	ENSP00000368100.4:n.1969+17A>G
ENST00000638452.2:c.1672+17A>G	ENSP00000492349.2:n.1672+17A>G
ENST00000638504.1:n.1480-43A>G
ENST00000638568.2:c.1672+17A>G	ENSP00000491158.2:n.1672+17A>G
ENST00000639899.1:n.2488+17A>G
ENST00000640655.2:c.1672+17A>G	ENSP00000491596.2:n.1672+17A>G
ENST00000651160.1:c.*16-43A>G	ENSP00000498829.1:n.*16-43A>G
ENST00000651658.1:n.2512+17A>G
ENST00000651723.1:c.*2052+17A>G	ENSP00000498237.1:n.*2052+17A>G
ENST00000652016.1:c.*89-43A>G	ENSP00000498267.1:n.*89-43A>G
ENST00000652485.1:c.2002+17A>G	ENSP00000498973.1:n.2002+17A>G
ENST00000378823.7:c.1969+17A>G	ENSP00000368100.4:n.1969+17A>G
ENST00000423956.5:c.*155+17A>G	ENSP00000390971.1:n.*155+17A>G
ENST00000453394.5:c.1786+17A>G	ENSP00000400049.1:n.1786+17A>G
ENST00000533482.5:c.*1595+17A>G	ENSP00000431225.1:n.*1595+17A>G
NM_005732.3:c.1969+17A>G	NP_005723.2:n.1969+17A>G
NM_005732.4:c.1969+17A>G MANE Select	NP_005723.2:n.1969+17A>G