Canonical Allele Identifier: CA360955323

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1446505
• ClinVar RCV Id: RCV001992859
• dbSNP Id: rs2149847228
• MyVariant Identifiers: chr5:g.131939621A>G (hg19) ; chr5:g.132603929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132603929A>G , CM000667.2:g.132603929A>G	GRCh38
NC_000005.9:g.131939621A>G , CM000667.1:g.131939621A>G	GRCh37
NC_000005.8:g.131967520A>G	NCBI36
NG_021151.1:g.52006A>G
NG_021151.2:g.51953A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.2407A>G MANE Select	ENSP00000368100.4:p.Lys803Glu
ENST00000638452.2:c.2110A>G	ENSP00000492349.2:p.Lys704Glu
ENST00000638504.1:n.2015A>G
ENST00000638568.2:c.2110A>G	ENSP00000491158.2:p.Lys704Glu
ENST00000639899.1:n.2926A>G
ENST00000640655.2:c.2110A>G	ENSP00000491596.2:p.Lys704Glu
ENST00000651160.1:c.*551A>G	ENSP00000498829.1:n.*551A>G
ENST00000651658.1:n.2950A>G
ENST00000651723.1:c.*2490A>G	ENSP00000498237.1:n.*2490A>G
ENST00000652016.1:c.*624A>G	ENSP00000498267.1:n.*624A>G
ENST00000652485.1:c.2440A>G	ENSP00000498973.1:p.Lys814Glu
ENST00000378823.7:c.2407A>G	ENSP00000368100.4:p.Lys803Glu
ENST00000423956.5:c.*593A>G	ENSP00000390971.1:n.*593A>G
ENST00000533482.5:c.*2033A>G	ENSP00000431225.1:n.*2033A>G
NM_005732.3:c.2407A>G	NP_005723.2:p.Lys803Glu
NM_005732.4:c.2407A>G MANE Select	NP_005723.2:p.Lys803Glu