Canonical Allele Identifier: CA3405401

Gene: RAD50

Linked Data

• ClinVar Variation Id: 229831
• ClinVar RCV Id: RCV000219775
• dbSNP Id: rs541233049
• ExAC: 5:131939715 A / G
• gnomAD v2: 5-131939715-A-G
• gnomAD v3: 5-132604023-A-G
• gnomAD v4: 5-132604023-A-G
• MyVariant Identifiers: chr5:g.131939715A>G (hg19) ; chr5:g.132604023A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604023A>G , CM000667.2:g.132604023A>G	GRCh38
NC_000005.9:g.131939715A>G , CM000667.1:g.131939715A>G	GRCh37
NC_000005.8:g.131967614A>G	NCBI36
NG_021151.1:g.52100A>G
NG_021151.2:g.52047A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2501A>G MANE Select	ENSP00000368100.4:p.Glu834Gly
ENST00000638452.2:c.2204A>G	ENSP00000492349.2:p.Glu735Gly
ENST00000638504.1:n.2109A>G
ENST00000638568.2:c.2204A>G	ENSP00000491158.2:p.Glu735Gly
ENST00000639899.1:n.3020A>G
ENST00000640655.2:c.2204A>G	ENSP00000491596.2:p.Glu735Gly
ENST00000651160.1:c.*645A>G	ENSP00000498829.1:n.*645A>G
ENST00000651658.1:n.3044A>G
ENST00000651723.1:c.*2584A>G	ENSP00000498237.1:n.*2584A>G
ENST00000652016.1:c.*718A>G	ENSP00000498267.1:n.*718A>G
ENST00000652485.1:c.2534A>G	ENSP00000498973.1:p.Glu845Gly
ENST00000378823.7:c.2501A>G	ENSP00000368100.4:p.Glu834Gly
ENST00000423956.5:c.*687A>G	ENSP00000390971.1:n.*687A>G
ENST00000533482.5:c.*2127A>G	ENSP00000431225.1:n.*2127A>G
NM_005732.3:c.2501A>G	NP_005723.2:p.Glu834Gly
NM_005732.4:c.2501A>G MANE Select	NP_005723.2:p.Glu834Gly