Canonical Allele Identifier: CA3405439

Gene: RAD50

Linked Data

• ClinVar Variation Id: 231122
• ClinVar RCV Id: RCV000222253 ; RCV002257522 ; RCV002469076
• dbSNP Id: rs768654795
• ExAC: 5:131940631 A / G
• gnomAD v2: 5-131940631-A-G
• gnomAD v3: 5-132604939-A-G
• gnomAD v4: 5-132604939-A-G
• MyVariant Identifiers: chr5:g.131940631A>G (hg19) ; chr5:g.132604939A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604939A>G , CM000667.2:g.132604939A>G	GRCh38
NC_000005.9:g.131940631A>G , CM000667.1:g.131940631A>G	GRCh37
NC_000005.8:g.131968530A>G	NCBI36
NG_021151.1:g.53016A>G
NG_021151.2:g.52963A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2658A>G MANE Select	ENSP00000368100.4:p.Gln886=
ENST00000638452.2:c.2361A>G	ENSP00000492349.2:p.Gln787=
ENST00000638504.1:n.2266A>G
ENST00000638568.2:c.2361A>G	ENSP00000491158.2:p.Gln787=
ENST00000639899.1:n.3177A>G
ENST00000640655.2:c.2361A>G	ENSP00000491596.2:p.Gln787=
ENST00000651160.1:c.*802A>G	ENSP00000498829.1:n.*802A>G
ENST00000651723.1:c.*2741A>G	ENSP00000498237.1:n.*2741A>G
ENST00000652016.1:c.*875A>G	ENSP00000498267.1:n.*875A>G
ENST00000378823.7:c.2658A>G	ENSP00000368100.4:p.Gln886=
ENST00000423956.5:c.*844A>G	ENSP00000390971.1:n.*844A>G
ENST00000533482.5:c.*2284A>G	ENSP00000431225.1:n.*2284A>G
NM_005732.3:c.2658A>G	NP_005723.2:p.Gln886=
NM_005732.4:c.2658A>G MANE Select	NP_005723.2:p.Gln886=