Canonical Allele Identifier: CA3405282

Gene: RAD50

Linked Data

• ClinVar Variation Id: 457387
• ClinVar RCV Id: RCV000558289
• dbSNP Id: rs749083001
• ExAC: 5:131930584 A / G
• gnomAD v2: 5-131930584-A-G
• gnomAD v4: 5-132594892-A-G
• MyVariant Identifiers: chr5:g.131930584A>G (hg19) ; chr5:g.132594892A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594892A>G , CM000667.2:g.132594892A>G	GRCh38
NC_000005.9:g.131930584A>G , CM000667.1:g.131930584A>G	GRCh37
NC_000005.8:g.131958483A>G	NCBI36
NG_021151.1:g.42969A>G
NG_021151.2:g.42916A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1817A>G MANE Select	ENSP00000368100.4:p.Gln606Arg
ENST00000638452.2:c.1520A>G	ENSP00000492349.2:p.Gln507Arg
ENST00000638504.1:n.1480-212A>G
ENST00000638568.2:c.1520A>G	ENSP00000491158.2:p.Gln507Arg
ENST00000639899.1:n.2336A>G
ENST00000640655.2:c.1520A>G	ENSP00000491596.2:p.Gln507Arg
ENST00000651160.1:c.*16-212A>G	ENSP00000498829.1:n.*16-212A>G
ENST00000651658.1:n.2360A>G
ENST00000651723.1:c.*1900A>G	ENSP00000498237.1:n.*1900A>G
ENST00000652016.1:c.*89-212A>G	ENSP00000498267.1:n.*89-212A>G
ENST00000652485.1:c.1850A>G	ENSP00000498973.1:p.Gln617Arg
ENST00000378823.7:c.1817A>G	ENSP00000368100.4:p.Gln606Arg
ENST00000423956.5:c.*3A>G	ENSP00000390971.1:n.*3A>G
ENST00000453394.5:c.1634A>G	ENSP00000400049.1:p.Gln545Arg
ENST00000533482.5:c.*1443A>G	ENSP00000431225.1:n.*1443A>G
NM_005732.3:c.1817A>G	NP_005723.2:p.Gln606Arg
NM_005732.4:c.1817A>G MANE Select	NP_005723.2:p.Gln606Arg