Canonical Allele Identifier: CA127232560
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

dbSNP Id: rs916666871

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132634065A>G , CM000667.2:g.132634065A>G GRCh38
NC_000005.9:g.131969757A>G , CM000667.1:g.131969757A>G GRCh37
NC_000005.8:g.131997656A>G NCBI36
NG_021151.1:g.82142A>G
NG_021151.2:g.82089A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3390-3050A>G (RAD50) MANE Select ENSP00000368100.4:n.3390-3050A>G
ENST00000638452.2:c.3093-3050A>G ENSP00000492349.2:n.3093-3050A>G
ENST00000638504.1:n.2998-3050A>G
ENST00000638568.2:c.3093-3050A>G ENSP00000491158.2:n.3093-3050A>G
ENST00000639899.1:n.3909-3050A>G
ENST00000640655.2:c.3093-3050A>G ENSP00000491596.2:n.3093-3050A>G
ENST00000651249.1:c.226-3050A>G (RAD50)
ENST00000378823.7:c.3390-3050A>G (RAD50) ENSP00000368100.4:n.3390-3050A>G
ENST00000455677.1:c.25-3050A>G (RAD50)
ENST00000533482.5:c.*3016-3050A>G (RAD50) ENSP00000431225.1:n.*3016-3050A>G
NM_005732.3:c.3390-3050A>G (RAD50) NP_005723.2:n.3390-3050A>G
NR_132124.1:n.154-3174T>C (TH2LCRR)
NM_005732.4:c.3390-3050A>G (RAD50) MANE Select NP_005723.2:n.3390-3050A>G