Canonical Allele Identifier: CA2573138951

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1533932
• ClinVar RCV Id: RCV002082747
• dbSNP Id: rs2149853756
• gnomAD v4: 5-132618058-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132618058T>C , CM000667.2:g.132618058T>C	GRCh38
NC_000005.9:g.131953750T>C , CM000667.1:g.131953750T>C	GRCh37
NC_000005.8:g.131981649T>C	NCBI36
NG_021151.1:g.66135T>C
NG_021151.2:g.66082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3165-12T>C MANE Select	ENSP00000368100.4:n.3165-12T>C
ENST00000638452.2:c.2868-12T>C	ENSP00000492349.2:n.2868-12T>C
ENST00000638504.1:n.2773-12T>C
ENST00000638568.2:c.2868-12T>C	ENSP00000491158.2:n.2868-12T>C
ENST00000639899.1:n.3684-12T>C
ENST00000640655.2:c.2868-12T>C	ENSP00000491596.2:n.2868-12T>C
ENST00000378823.7:c.3165-12T>C	ENSP00000368100.4:n.3165-12T>C
ENST00000533482.5:c.*2791-12T>C	ENSP00000431225.1:n.*2791-12T>C
NM_005732.3:c.3165-12T>C	NP_005723.2:n.3165-12T>C
NM_005732.4:c.3165-12T>C MANE Select	NP_005723.2:n.3165-12T>C