Canonical Allele Identifier: CA446356579

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 824306
• ClinVar RCV Id: RCV001021296
• dbSNP Id: rs1581025096
• MyVariant Identifiers: chr5:g.131977972A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642280A>G , CM000667.2:g.132642280A>G	GRCh38
NC_000005.9:g.131977972A>G , CM000667.1:g.131977972A>G	GRCh37
NC_000005.8:g.132005871A>G	NCBI36
NG_021151.1:g.90357A>G
NG_021151.2:g.90304A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000378823.8:c.3855A>G (RAD50) MANE Select	ENSP00000368100.4:p.Lys1285=
ENST00000638452.2:c.3558A>G	ENSP00000492349.2:p.Lys1186=
ENST00000638504.1:n.3463A>G
ENST00000638568.2:c.3558A>G	ENSP00000491158.2:p.Lys1186=
ENST00000639899.1:n.4374A>G
ENST00000640655.2:c.3558A>G	ENSP00000491596.2:p.Lys1186=
ENST00000651249.1:c.691A>G (RAD50)
ENST00000378823.7:c.3855A>G (RAD50)	ENSP00000368100.4:p.Lys1285=
ENST00000455677.1:c.388-725A>G (RAD50)
ENST00000533482.5:c.*3481A>G (RAD50)	ENSP00000431225.1:n.*3481A>G
NM_005732.3:c.3855A>G (RAD50)	NP_005723.2:p.Lys1285=
NR_132125.1:n.107T>C (TH2LCRR)
NR_132126.1:n.175-4015T>C (TH2LCRR)
NM_005732.4:c.3855A>G (RAD50) MANE Select	NP_005723.2:p.Lys1285=