Canonical Allele Identifier: CA360959980

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1384191
• ClinVar RCV Id: RCV001924770
• dbSNP Id: rs2149849728
• MyVariant Identifiers: chr5:g.131944888A>G (hg19) ; chr5:g.132609196A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132609196A>G , CM000667.2:g.132609196A>G	GRCh38
NC_000005.9:g.131944888A>G , CM000667.1:g.131944888A>G	GRCh37
NC_000005.8:g.131972787A>G	NCBI36
NG_021151.1:g.57273A>G
NG_021151.2:g.57220A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.2909A>G MANE Select	ENSP00000368100.4:p.Asp970Gly
ENST00000638452.2:c.2612A>G	ENSP00000492349.2:p.Asp871Gly
ENST00000638504.1:n.2517A>G
ENST00000638568.2:c.2612A>G	ENSP00000491158.2:p.Asp871Gly
ENST00000639899.1:n.3428A>G
ENST00000640655.2:c.2612A>G	ENSP00000491596.2:p.Asp871Gly
ENST00000651160.1:c.*1053A>G	ENSP00000498829.1:n.*1053A>G
ENST00000651723.1:c.*2992A>G	ENSP00000498237.1:n.*2992A>G
ENST00000378823.7:c.2909A>G	ENSP00000368100.4:p.Asp970Gly
ENST00000423956.5:c.*1095A>G	ENSP00000390971.1:n.*1095A>G
ENST00000533482.5:c.*2535A>G	ENSP00000431225.1:n.*2535A>G
NM_005732.3:c.2909A>G	NP_005723.2:p.Asp970Gly
NM_005732.4:c.2909A>G MANE Select	NP_005723.2:p.Asp970Gly