Canonical Allele Identifier: CA360935525

Gene: RAD50 TH2LCRR

Linked Data

• COSMIC: COSM481906 ; COSM481907
• MyVariant Identifiers: chr5:g.131977874A>C (hg19) ; chr5:g.132642182A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132642182A>C , CM000667.2:g.132642182A>C	GRCh38
NC_000005.9:g.131977874A>C , CM000667.1:g.131977874A>C	GRCh37
NC_000005.8:g.132005773A>C	NCBI36
NG_021151.1:g.90259A>C
NG_021151.2:g.90206A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378823.8:c.3757A>C (RAD50) MANE Select	ENSP00000368100.4:p.Ile1253Leu
ENST00000638452.2:c.3460A>C	ENSP00000492349.2:p.Ile1154Leu
ENST00000638504.1:n.3365A>C
ENST00000638568.2:c.3460A>C	ENSP00000491158.2:p.Ile1154Leu
ENST00000639899.1:n.4276A>C
ENST00000640655.2:c.3460A>C	ENSP00000491596.2:p.Ile1154Leu
ENST00000651249.1:c.593A>C (RAD50)
ENST00000378823.7:c.3757A>C (RAD50)	ENSP00000368100.4:p.Ile1253Leu
ENST00000455677.1:c.388-823A>C (RAD50)
ENST00000533482.5:c.*3383A>C (RAD50)	ENSP00000431225.1:n.*3383A>C
NM_005732.3:c.3757A>C (RAD50)	NP_005723.2:p.Ile1253Leu
NR_132125.1:n.189+16T>G (TH2LCRR)
NR_132126.1:n.175-3917T>G (TH2LCRR)
NM_005732.4:c.3757A>C (RAD50) MANE Select	NP_005723.2:p.Ile1253Leu