Canonical Allele Identifier: CA3405392

Gene: RAD50

Linked Data

• ClinVar Variation Id: 414950
• ClinVar RCV Id: RCV003401500
• dbSNP Id: rs762456674
• ExAC: 5:131939623 A / G
• gnomAD v2: 5-131939623-A-G
• gnomAD v3: 5-132603931-A-G
• gnomAD v4: 5-132603931-A-G
• MyVariant Identifiers: chr5:g.131939623A>G (hg19) ; chr5:g.132603931A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603931A>G , CM000667.2:g.132603931A>G	GRCh38
NC_000005.9:g.131939623A>G , CM000667.1:g.131939623A>G	GRCh37
NC_000005.8:g.131967522A>G	NCBI36
NG_021151.1:g.52008A>G
NG_021151.2:g.51955A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2409A>G MANE Select	ENSP00000368100.4:p.Lys803=
ENST00000638452.2:c.2112A>G	ENSP00000492349.2:p.Lys704=
ENST00000638504.1:n.2017A>G
ENST00000638568.2:c.2112A>G	ENSP00000491158.2:p.Lys704=
ENST00000639899.1:n.2928A>G
ENST00000640655.2:c.2112A>G	ENSP00000491596.2:p.Lys704=
ENST00000651160.1:c.*553A>G	ENSP00000498829.1:n.*553A>G
ENST00000651658.1:n.2952A>G
ENST00000651723.1:c.*2492A>G	ENSP00000498237.1:n.*2492A>G
ENST00000652016.1:c.*626A>G	ENSP00000498267.1:n.*626A>G
ENST00000652485.1:c.2442A>G	ENSP00000498973.1:p.Lys814=
ENST00000378823.7:c.2409A>G	ENSP00000368100.4:p.Lys803=
ENST00000423956.5:c.*595A>G	ENSP00000390971.1:n.*595A>G
ENST00000533482.5:c.*2035A>G	ENSP00000431225.1:n.*2035A>G
NM_005732.3:c.2409A>G	NP_005723.2:p.Lys803=
NM_005732.4:c.2409A>G MANE Select	NP_005723.2:p.Lys803=