Canonical Allele Identifier: CA127234566
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

dbSNP Id: rs966164959

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132637402C>G , CM000667.2:g.132637402C>G GRCh38
NC_000005.9:g.131973094C>G , CM000667.1:g.131973094C>G GRCh37
NC_000005.8:g.132000993C>G NCBI36
NG_021151.1:g.85479C>G
NG_021151.2:g.85426C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378823.8:c.3475+202C>G (RAD50) MANE Select ENSP00000368100.4:n.3475+202C>G
ENST00000638452.2:c.3178+202C>G ENSP00000492349.2:n.3178+202C>G
ENST00000638504.1:n.3083+202C>G
ENST00000638568.2:c.3178+202C>G ENSP00000491158.2:n.3178+202C>G
ENST00000639899.1:n.3994+202C>G
ENST00000640655.2:c.3178+202C>G ENSP00000491596.2:n.3178+202C>G
ENST00000651249.1:c.311+202C>G (RAD50)
ENST00000378823.7:c.3475+202C>G (RAD50) ENSP00000368100.4:n.3475+202C>G
ENST00000455677.1:c.110+202C>G (RAD50)
ENST00000533482.5:c.*3101+202C>G (RAD50) ENSP00000431225.1:n.*3101+202C>G
NM_005732.3:c.3475+202C>G (RAD50) NP_005723.2:n.3475+202C>G
NR_132124.1:n.153+756G>C (TH2LCRR)
NM_005732.4:c.3475+202C>G (RAD50) MANE Select NP_005723.2:n.3475+202C>G