Canonical Allele Identifier: CA360935501

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 1369435
• ClinVar RCV Id: RCV001870630
• dbSNP Id: rs2149866803
• MyVariant Identifiers: chr5:g.131977872T>A (hg19) ; chr5:g.132642180T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642180T>A , CM000667.2:g.132642180T>A	GRCh38
NC_000005.9:g.131977872T>A , CM000667.1:g.131977872T>A	GRCh37
NC_000005.8:g.132005771T>A	NCBI36
NG_021151.1:g.90257T>A
NG_021151.2:g.90204T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3755T>A (RAD50) MANE Select	ENSP00000368100.4:p.Ile1252Lys
ENST00000638452.2:c.3458T>A	ENSP00000492349.2:p.Ile1153Lys
ENST00000638504.1:n.3363T>A
ENST00000638568.2:c.3458T>A	ENSP00000491158.2:p.Ile1153Lys
ENST00000639899.1:n.4274T>A
ENST00000640655.2:c.3458T>A	ENSP00000491596.2:p.Ile1153Lys
ENST00000651249.1:c.591T>A (RAD50)
ENST00000378823.7:c.3755T>A (RAD50)	ENSP00000368100.4:p.Ile1252Lys
ENST00000455677.1:c.388-825T>A (RAD50)
ENST00000533482.5:c.*3381T>A (RAD50)	ENSP00000431225.1:n.*3381T>A
NM_005732.3:c.3755T>A (RAD50)	NP_005723.2:p.Ile1252Lys
NR_132125.1:n.189+18A>T (TH2LCRR)
NR_132126.1:n.175-3915A>T (TH2LCRR)
NM_005732.4:c.3755T>A (RAD50) MANE Select	NP_005723.2:p.Ile1252Lys