Canonical Allele Identifier: CA446362159

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1612762
• ClinVar RCV Id: RCV002170924
• dbSNP Id: rs2149843754
• MyVariant Identifiers: chr5:g.131930684A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132594992A>G , CM000667.2:g.132594992A>G	GRCh38
NC_000005.9:g.131930684A>G , CM000667.1:g.131930684A>G	GRCh37
NC_000005.8:g.131958583A>G	NCBI36
NG_021151.1:g.43069A>G
NG_021151.2:g.43016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.1917A>G MANE Select	ENSP00000368100.4:p.Glu639=
ENST00000638452.2:c.1620A>G	ENSP00000492349.2:p.Glu540=
ENST00000638504.1:n.1480-112A>G
ENST00000638568.2:c.1620A>G	ENSP00000491158.2:p.Glu540=
ENST00000639899.1:n.2436A>G
ENST00000640655.2:c.1620A>G	ENSP00000491596.2:p.Glu540=
ENST00000651160.1:c.*16-112A>G	ENSP00000498829.1:n.*16-112A>G
ENST00000651658.1:n.2460A>G
ENST00000651723.1:c.*2000A>G	ENSP00000498237.1:n.*2000A>G
ENST00000652016.1:c.*89-112A>G	ENSP00000498267.1:n.*89-112A>G
ENST00000652485.1:c.1950A>G	ENSP00000498973.1:p.Glu650=
ENST00000378823.7:c.1917A>G	ENSP00000368100.4:p.Glu639=
ENST00000423956.5:c.*103A>G	ENSP00000390971.1:n.*103A>G
ENST00000453394.5:c.1734A>G	ENSP00000400049.1:p.Glu578=
ENST00000533482.5:c.*1543A>G	ENSP00000431225.1:n.*1543A>G
NM_005732.3:c.1917A>G	NP_005723.2:p.Glu639=
NM_005732.4:c.1917A>G MANE Select	NP_005723.2:p.Glu639=