Canonical Allele Identifier: CA3405225

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1442257
• ClinVar RCV Id: RCV001969820
• dbSNP Id: rs766238462
• ExAC: 5:131927576 A / G
• gnomAD v2: 5-131927576-A-G
• gnomAD v4: 5-132591884-A-G
• MyVariant Identifiers: chr5:g.131927576A>G (hg19) ; chr5:g.132591884A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132591884A>G , CM000667.2:g.132591884A>G	GRCh38
NC_000005.9:g.131927576A>G , CM000667.1:g.131927576A>G	GRCh37
NC_000005.8:g.131955475A>G	NCBI36
NG_021151.1:g.39961A>G
NG_021151.2:g.39908A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1643A>G MANE Select	ENSP00000368100.4:p.Lys548Arg
ENST00000638452.2:c.1346A>G	ENSP00000492349.2:p.Lys449Arg
ENST00000638504.1:n.1329A>G
ENST00000638568.2:c.1346A>G	ENSP00000491158.2:p.Lys449Arg
ENST00000639899.1:n.2162A>G
ENST00000640655.2:c.1346A>G	ENSP00000491596.2:p.Lys449Arg
ENST00000651160.1:c.1643A>G	ENSP00000498829.1:p.Lys548Arg
ENST00000651541.1:c.1346A>G	ENSP00000498795.1:p.Lys449Arg
ENST00000651658.1:n.2070A>G
ENST00000651723.1:c.*1726A>G	ENSP00000498237.1:n.*1726A>G
ENST00000652016.1:c.1643A>G	ENSP00000498267.1:p.Lys548Arg
ENST00000652485.1:c.1676A>G	ENSP00000498973.1:p.Lys559Arg
ENST00000378823.7:c.1643A>G	ENSP00000368100.4:p.Lys548Arg
ENST00000423956.5:c.1635+478A>G	ENSP00000390971.1:n.1635+478A>G
ENST00000434288.1:c.138A>G
ENST00000453394.5:c.1460A>G	ENSP00000400049.1:p.Lys487Arg
ENST00000533482.5:c.*1269A>G	ENSP00000431225.1:n.*1269A>G
NM_005732.3:c.1643A>G	NP_005723.2:p.Lys548Arg
NM_005732.4:c.1643A>G MANE Select	NP_005723.2:p.Lys548Arg