Canonical Allele Identifier: CA2499217571

Gene: RAD50

Linked Data

• ClinVar Variation Id: 1146653
• ClinVar RCV Id: RCV001485948
• dbSNP Id: rs2149830218

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132557460C>T , CM000667.2:g.132557460C>T	GRCh38
NC_000005.9:g.131893152C>T , CM000667.1:g.131893152C>T	GRCh37
NC_000005.8:g.131921051C>T	NCBI36
NG_021151.1:g.5537C>T
NG_021151.2:g.5484C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.129+7C>T MANE Select	ENSP00000368100.4:n.129+7C>T
ENST00000638452.2:c.-168-1824C>T	ENSP00000492349.2:n.-168-1824C>T
ENST00000638504.1:n.207-1824C>T
ENST00000638568.2:c.-169+987C>T	ENSP00000491158.2:n.-169+987C>T
ENST00000639899.1:n.290-1824C>T
ENST00000640655.2:c.-168-1824C>T	ENSP00000491596.2:n.-168-1824C>T
ENST00000651160.1:c.129+7C>T	ENSP00000498829.1:n.129+7C>T
ENST00000651541.1:c.-169+451C>T	ENSP00000498795.1:n.-169+451C>T
ENST00000651658.1:n.197+7C>T
ENST00000651723.1:c.136C>T	ENSP00000498237.1:p.Leu46Phe
ENST00000652016.1:c.129+7C>T	ENSP00000498267.1:n.129+7C>T
ENST00000652485.1:c.129+7C>T	ENSP00000498973.1:n.129+7C>T
ENST00000378823.7:c.129+7C>T	ENSP00000368100.4:n.129+7C>T
ENST00000416135.5:c.-169+987C>T	ENSP00000389515.1:n.-169+987C>T
ENST00000423956.5:c.129+7C>T	ENSP00000390971.1:n.129+7C>T
ENST00000453394.5:c.129+7C>T	ENSP00000400049.1:n.129+7C>T
ENST00000533482.5:c.129+7C>T	ENSP00000431225.1:n.129+7C>T
NM_005732.3:c.129+7C>T	NP_005723.2:n.129+7C>T
NM_005732.4:c.129+7C>T MANE Select	NP_005723.2:n.129+7C>T