Canonical Allele Identifier: CA360956520

Gene: RAD50

Linked Data

• ClinVar Variation Id: 482099
• ClinVar RCV Id: RCV000561522
• dbSNP Id: rs1554099192
• MyVariant Identifiers: chr5:g.131940575A>G (hg19) ; chr5:g.132604883A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604883A>G , CM000667.2:g.132604883A>G	GRCh38
NC_000005.9:g.131940575A>G , CM000667.1:g.131940575A>G	GRCh37
NC_000005.8:g.131968474A>G	NCBI36
NG_021151.1:g.52960A>G
NG_021151.2:g.52907A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2602A>G MANE Select	ENSP00000368100.4:p.Asn868Asp
ENST00000638452.2:c.2305A>G	ENSP00000492349.2:p.Asn769Asp
ENST00000638504.1:n.2210A>G
ENST00000638568.2:c.2305A>G	ENSP00000491158.2:p.Asn769Asp
ENST00000639899.1:n.3121A>G
ENST00000640655.2:c.2305A>G	ENSP00000491596.2:p.Asn769Asp
ENST00000651160.1:c.*746A>G	ENSP00000498829.1:n.*746A>G
ENST00000651723.1:c.*2685A>G	ENSP00000498237.1:n.*2685A>G
ENST00000652016.1:c.*819A>G	ENSP00000498267.1:n.*819A>G
ENST00000652485.1:c.2635A>G	ENSP00000498973.1:p.Asn879Asp
ENST00000378823.7:c.2602A>G	ENSP00000368100.4:p.Asn868Asp
ENST00000423956.5:c.*788A>G	ENSP00000390971.1:n.*788A>G
ENST00000533482.5:c.*2228A>G	ENSP00000431225.1:n.*2228A>G
NM_005732.3:c.2602A>G	NP_005723.2:p.Asn868Asp
NM_005732.4:c.2602A>G MANE Select	NP_005723.2:p.Asn868Asp