Canonical Allele Identifier: CA197148

Gene: RAD50

Linked Data

• ClinVar Variation Id: 187249
• ClinVar RCV Id: RCV000166964
• dbSNP Id: rs786203585
• gnomAD v2: 5-131940590-G-A
• gnomAD v4: 5-132604898-G-A
• MyVariant Identifiers: chr5:g.131940590G>A (hg19) ; chr5:g.132604898G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604898G>A , CM000667.2:g.132604898G>A	GRCh38
NC_000005.9:g.131940590G>A , CM000667.1:g.131940590G>A	GRCh37
NC_000005.8:g.131968489G>A	NCBI36
NG_021151.1:g.52975G>A
NG_021151.2:g.52922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2617G>A MANE Select	ENSP00000368100.4:p.Glu873Lys
ENST00000638452.2:c.2320G>A	ENSP00000492349.2:p.Glu774Lys
ENST00000638504.1:n.2225G>A
ENST00000638568.2:c.2320G>A	ENSP00000491158.2:p.Glu774Lys
ENST00000639899.1:n.3136G>A
ENST00000640655.2:c.2320G>A	ENSP00000491596.2:p.Glu774Lys
ENST00000651160.1:c.*761G>A	ENSP00000498829.1:n.*761G>A
ENST00000651723.1:c.*2700G>A	ENSP00000498237.1:n.*2700G>A
ENST00000652016.1:c.*834G>A	ENSP00000498267.1:n.*834G>A
ENST00000652485.1:c.2650G>A	ENSP00000498973.1:p.Glu884Lys
ENST00000378823.7:c.2617G>A	ENSP00000368100.4:p.Glu873Lys
ENST00000423956.5:c.*803G>A	ENSP00000390971.1:n.*803G>A
ENST00000533482.5:c.*2243G>A	ENSP00000431225.1:n.*2243G>A
NM_005732.3:c.2617G>A	NP_005723.2:p.Glu873Lys
NM_005732.4:c.2617G>A MANE Select	NP_005723.2:p.Glu873Lys