Canonical Allele Identifier: CA331865

Gene: RAD50

Linked Data

• ClinVar Variation Id: 128001
• ClinVar RCV Id: RCV000115937 ; RCV000212914 ; RCV000515380 ; RCV000766182 ; RCV001818282 ; RCV003398714
• dbSNP Id: rs28903092
• ExAC: 5:131931472 G / A
• gnomAD v2: 5-131931472-G-A
• gnomAD v3: 5-132595780-G-A
• gnomAD v4: 5-132595780-G-A
• COSMIC: COSM1433047 ; COSM1433048
• MyVariant Identifiers: chr5:g.131931472G>A (hg19) ; chr5:g.132595780G>A (hg38)
• PubMed: PMID:16385572 ; PMID:25503501

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132595780G>A , CM000667.2:g.132595780G>A	GRCh38
NC_000005.9:g.131931472G>A , CM000667.1:g.131931472G>A	GRCh37
NC_000005.8:g.131959371G>A	NCBI36
NG_021151.1:g.43857G>A
NG_021151.2:g.43804G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2177G>A MANE Select	ENSP00000368100.4:p.Arg726His
ENST00000638452.2:c.1880G>A	ENSP00000492349.2:p.Arg627His
ENST00000638504.1:n.1785G>A
ENST00000638568.2:c.1880G>A	ENSP00000491158.2:p.Arg627His
ENST00000639899.1:n.2696G>A
ENST00000640655.2:c.1880G>A	ENSP00000491596.2:p.Arg627His
ENST00000651160.1:c.*321G>A	ENSP00000498829.1:n.*321G>A
ENST00000651658.1:n.2720G>A
ENST00000651723.1:c.*2260G>A	ENSP00000498237.1:n.*2260G>A
ENST00000652016.1:c.*394G>A	ENSP00000498267.1:n.*394G>A
ENST00000652485.1:c.2210G>A	ENSP00000498973.1:p.Arg737His
ENST00000378823.7:c.2177G>A	ENSP00000368100.4:p.Arg726His
ENST00000423956.5:c.*363G>A	ENSP00000390971.1:n.*363G>A
ENST00000496204.1:n.260G>A
ENST00000533482.5:c.*1803G>A	ENSP00000431225.1:n.*1803G>A
NM_005732.3:c.2177G>A	NP_005723.2:p.Arg726His
NM_005732.4:c.2177G>A MANE Select	NP_005723.2:p.Arg726His