Canonical Allele Identifier: CA360948172

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2755230
• ClinVar RCV Id: RCV003584271
• MyVariant Identifiers: chr5:g.131930682G>A (hg19) ; chr5:g.132594990G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594990G>A , CM000667.2:g.132594990G>A	GRCh38
NC_000005.9:g.131930682G>A , CM000667.1:g.131930682G>A	GRCh37
NC_000005.8:g.131958581G>A	NCBI36
NG_021151.1:g.43067G>A
NG_021151.2:g.43014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1915G>A MANE Select	ENSP00000368100.4:p.Glu639Lys
ENST00000638452.2:c.1618G>A	ENSP00000492349.2:p.Glu540Lys
ENST00000638504.1:n.1480-114G>A
ENST00000638568.2:c.1618G>A	ENSP00000491158.2:p.Glu540Lys
ENST00000639899.1:n.2434G>A
ENST00000640655.2:c.1618G>A	ENSP00000491596.2:p.Glu540Lys
ENST00000651160.1:c.*16-114G>A	ENSP00000498829.1:n.*16-114G>A
ENST00000651658.1:n.2458G>A
ENST00000651723.1:c.*1998G>A	ENSP00000498237.1:n.*1998G>A
ENST00000652016.1:c.*89-114G>A	ENSP00000498267.1:n.*89-114G>A
ENST00000652485.1:c.1948G>A	ENSP00000498973.1:p.Glu650Lys
ENST00000378823.7:c.1915G>A	ENSP00000368100.4:p.Glu639Lys
ENST00000423956.5:c.*101G>A	ENSP00000390971.1:n.*101G>A
ENST00000453394.5:c.1732G>A	ENSP00000400049.1:p.Glu578Lys
ENST00000533482.5:c.*1541G>A	ENSP00000431225.1:n.*1541G>A
NM_005732.3:c.1915G>A	NP_005723.2:p.Glu639Lys
NM_005732.4:c.1915G>A MANE Select	NP_005723.2:p.Glu639Lys