Canonical Allele Identifier: CA360955822

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1023356
• ClinVar RCV Id: RCV001323385
• dbSNP Id: rs786203285
• gnomAD v2: 5-131939714-G-A
• gnomAD v4: 5-132604022-G-A
• MyVariant Identifiers: chr5:g.131939714G>A (hg19) ; chr5:g.132604022G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604022G>A , CM000667.2:g.132604022G>A	GRCh38
NC_000005.9:g.131939714G>A , CM000667.1:g.131939714G>A	GRCh37
NC_000005.8:g.131967613G>A	NCBI36
NG_021151.1:g.52099G>A
NG_021151.2:g.52046G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2500G>A MANE Select	ENSP00000368100.4:p.Glu834Lys
ENST00000638452.2:c.2203G>A	ENSP00000492349.2:p.Glu735Lys
ENST00000638504.1:n.2108G>A
ENST00000638568.2:c.2203G>A	ENSP00000491158.2:p.Glu735Lys
ENST00000639899.1:n.3019G>A
ENST00000640655.2:c.2203G>A	ENSP00000491596.2:p.Glu735Lys
ENST00000651160.1:c.*644G>A	ENSP00000498829.1:n.*644G>A
ENST00000651658.1:n.3043G>A
ENST00000651723.1:c.*2583G>A	ENSP00000498237.1:n.*2583G>A
ENST00000652016.1:c.*717G>A	ENSP00000498267.1:n.*717G>A
ENST00000652485.1:c.2533G>A	ENSP00000498973.1:p.Glu845Lys
ENST00000378823.7:c.2500G>A	ENSP00000368100.4:p.Glu834Lys
ENST00000423956.5:c.*686G>A	ENSP00000390971.1:n.*686G>A
ENST00000533482.5:c.*2126G>A	ENSP00000431225.1:n.*2126G>A
NM_005732.3:c.2500G>A	NP_005723.2:p.Glu834Lys
NM_005732.4:c.2500G>A MANE Select	NP_005723.2:p.Glu834Lys