Canonical Allele Identifier: CA3405677

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 1016741
• ClinVar RCV Id: RCV001315792
• dbSNP Id: rs762792547
• ExAC: 5:131977870 G / A
• gnomAD v2: 5-131977870-G-A
• gnomAD v4: 5-132642178-G-A
• MyVariant Identifiers: chr5:g.131977870G>A (hg19) ; chr5:g.132642178G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642178G>A , CM000667.2:g.132642178G>A	GRCh38
NC_000005.9:g.131977870G>A , CM000667.1:g.131977870G>A	GRCh37
NC_000005.8:g.132005769G>A	NCBI36
NG_021151.1:g.90255G>A
NG_021151.2:g.90202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3753G>A (RAD50) MANE Select	ENSP00000368100.4:p.Glu1251=
ENST00000638452.2:c.3456G>A	ENSP00000492349.2:p.Glu1152=
ENST00000638504.1:n.3361G>A
ENST00000638568.2:c.3456G>A	ENSP00000491158.2:p.Glu1152=
ENST00000639899.1:n.4272G>A
ENST00000640655.2:c.3456G>A	ENSP00000491596.2:p.Glu1152=
ENST00000651249.1:c.589G>A (RAD50)
ENST00000378823.7:c.3753G>A (RAD50)	ENSP00000368100.4:p.Glu1251=
ENST00000455677.1:c.388-827G>A (RAD50)
ENST00000533482.5:c.*3379G>A (RAD50)	ENSP00000431225.1:n.*3379G>A
NM_005732.3:c.3753G>A (RAD50)	NP_005723.2:p.Glu1251=
NR_132125.1:n.189+20C>T (TH2LCRR)
NR_132126.1:n.175-3913C>T (TH2LCRR)
NM_005732.4:c.3753G>A (RAD50) MANE Select	NP_005723.2:p.Glu1251=