Canonical Allele Identifier: CA163915

Gene: RAD50 TH2LCRR

Linked Data

• ClinVar Variation Id: 140919
• ClinVar RCV Id: RCV000129182
• dbSNP Id: rs587781369
• gnomAD v4: 5-132642282-T-C
• MyVariant Identifiers: chr5:g.131977974T>C (hg19) ; chr5:g.132642282T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642282T>C , CM000667.2:g.132642282T>C	GRCh38
NC_000005.9:g.131977974T>C , CM000667.1:g.131977974T>C	GRCh37
NC_000005.8:g.132005873T>C	NCBI36
NG_021151.1:g.90359T>C
NG_021151.2:g.90306T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3857T>C (RAD50) MANE Select	ENSP00000368100.4:p.Phe1286Ser
ENST00000638452.2:c.3560T>C	ENSP00000492349.2:p.Phe1187Ser
ENST00000638504.1:n.3465T>C
ENST00000638568.2:c.3560T>C	ENSP00000491158.2:p.Phe1187Ser
ENST00000639899.1:n.4376T>C
ENST00000640655.2:c.3560T>C	ENSP00000491596.2:p.Phe1187Ser
ENST00000651249.1:c.693T>C (RAD50)
ENST00000378823.7:c.3857T>C (RAD50)	ENSP00000368100.4:p.Phe1286Ser
ENST00000455677.1:c.388-723T>C (RAD50)
ENST00000533482.5:c.*3483T>C (RAD50)	ENSP00000431225.1:n.*3483T>C
NM_005732.3:c.3857T>C (RAD50)	NP_005723.2:p.Phe1286Ser
NR_132125.1:n.105A>G (TH2LCRR)
NR_132126.1:n.175-4017A>G (TH2LCRR)
NM_005732.4:c.3857T>C (RAD50) MANE Select	NP_005723.2:p.Phe1286Ser