Canonical Allele Identifier: CA360956974

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1405601
• ClinVar RCV Id: RCV001903928
• dbSNP Id: rs2149847862
• MyVariant Identifiers: chr5:g.131940679C>G (hg19) ; chr5:g.132604987C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132604987C>G , CM000667.2:g.132604987C>G	GRCh38
NC_000005.9:g.131940679C>G , CM000667.1:g.131940679C>G	GRCh37
NC_000005.8:g.131968578C>G	NCBI36
NG_021151.1:g.53064C>G
NG_021151.2:g.53011C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2706C>G MANE Select	ENSP00000368100.4:p.Tyr902Ter
ENST00000638452.2:c.2409C>G	ENSP00000492349.2:p.Tyr803Ter
ENST00000638504.1:n.2314C>G
ENST00000638568.2:c.2409C>G	ENSP00000491158.2:p.Tyr803Ter
ENST00000639899.1:n.3225C>G
ENST00000640655.2:c.2409C>G	ENSP00000491596.2:p.Tyr803Ter
ENST00000651160.1:c.*850C>G	ENSP00000498829.1:n.*850C>G
ENST00000651723.1:c.*2789C>G	ENSP00000498237.1:n.*2789C>G
ENST00000652016.1:c.*923C>G	ENSP00000498267.1:n.*923C>G
ENST00000378823.7:c.2706C>G	ENSP00000368100.4:p.Tyr902Ter
ENST00000423956.5:c.*892C>G	ENSP00000390971.1:n.*892C>G
ENST00000533482.5:c.*2332C>G	ENSP00000431225.1:n.*2332C>G
NM_005732.3:c.2706C>G	NP_005723.2:p.Tyr902Ter
NM_005732.4:c.2706C>G MANE Select	NP_005723.2:p.Tyr902Ter