Canonical Allele Identifier: CA360955276

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2988080
• ClinVar RCV Id: RCV003844263
• gnomAD v4: 5-132603920-A-G
• COSMIC: COSM6233114 ; COSM6233115
• MyVariant Identifiers: chr5:g.131939612A>G (hg19) ; chr5:g.132603920A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603920A>G , CM000667.2:g.132603920A>G	GRCh38
NC_000005.9:g.131939612A>G , CM000667.1:g.131939612A>G	GRCh37
NC_000005.8:g.131967511A>G	NCBI36
NG_021151.1:g.51997A>G
NG_021151.2:g.51944A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2398A>G MANE Select	ENSP00000368100.4:p.Met800Val
ENST00000638452.2:c.2101A>G	ENSP00000492349.2:p.Met701Val
ENST00000638504.1:n.2006A>G
ENST00000638568.2:c.2101A>G	ENSP00000491158.2:p.Met701Val
ENST00000639899.1:n.2917A>G
ENST00000640655.2:c.2101A>G	ENSP00000491596.2:p.Met701Val
ENST00000651160.1:c.*542A>G	ENSP00000498829.1:n.*542A>G
ENST00000651658.1:n.2941A>G
ENST00000651723.1:c.*2481A>G	ENSP00000498237.1:n.*2481A>G
ENST00000652016.1:c.*615A>G	ENSP00000498267.1:n.*615A>G
ENST00000652485.1:c.2431A>G	ENSP00000498973.1:p.Met811Val
ENST00000378823.7:c.2398A>G	ENSP00000368100.4:p.Met800Val
ENST00000423956.5:c.*584A>G	ENSP00000390971.1:n.*584A>G
ENST00000533482.5:c.*2024A>G	ENSP00000431225.1:n.*2024A>G
NM_005732.3:c.2398A>G	NP_005723.2:p.Met800Val
NM_005732.4:c.2398A>G MANE Select	NP_005723.2:p.Met800Val