Canonical Allele Identifier: CA127258819

Gene: RAD50

Linked Data

• ClinVar Variation Id: 2041784
• ClinVar RCV Id: RCV002903241
• dbSNP Id: rs972206641
• gnomAD v2: 5-131940708-A-G
• gnomAD v4: 5-132605016-A-G
• MyVariant Identifiers: chr5:g.131940708A>G (hg19) ; chr5:g.132605016A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132605016A>G , CM000667.2:g.132605016A>G	GRCh38
NC_000005.9:g.131940708A>G , CM000667.1:g.131940708A>G	GRCh37
NC_000005.8:g.131968607A>G	NCBI36
NG_021151.1:g.53093A>G
NG_021151.2:g.53040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2718+17A>G MANE Select	ENSP00000368100.4:n.2718+17A>G
ENST00000638452.2:c.2421+17A>G	ENSP00000492349.2:n.2421+17A>G
ENST00000638504.1:n.2326+17A>G
ENST00000638568.2:c.2421+17A>G	ENSP00000491158.2:n.2421+17A>G
ENST00000639899.1:n.3237+17A>G
ENST00000640655.2:c.2421+17A>G	ENSP00000491596.2:n.2421+17A>G
ENST00000651160.1:c.*862+17A>G	ENSP00000498829.1:n.*862+17A>G
ENST00000651723.1:c.*2801+17A>G	ENSP00000498237.1:n.*2801+17A>G
ENST00000652016.1:c.*935+17A>G	ENSP00000498267.1:n.*935+17A>G
ENST00000378823.7:c.2718+17A>G	ENSP00000368100.4:n.2718+17A>G
ENST00000423956.5:c.*904+17A>G	ENSP00000390971.1:n.*904+17A>G
ENST00000533482.5:c.*2344+17A>G	ENSP00000431225.1:n.*2344+17A>G
NM_005732.3:c.2718+17A>G	NP_005723.2:n.2718+17A>G
NM_005732.4:c.2718+17A>G MANE Select	NP_005723.2:n.2718+17A>G