Canonical Allele Identifier: CA446356718
Gene: RAD50 HGNC NCBI
TH2LCRR HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.131978056A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132642364A>G , CM000667.2:g.132642364A>G GRCh38
NC_000005.9:g.131978056A>G , CM000667.1:g.131978056A>G GRCh37
NC_000005.8:g.132005955A>G NCBI36
NG_021151.1:g.90441A>G
NG_021151.2:g.90388A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378823.8:c.3939A>G (RAD50) MANE Select ENSP00000368100.4:p.Ter1313=
ENST00000638452.2:c.3642A>G ENSP00000492349.2:p.Ter1214=
ENST00000638504.1:n.3547A>G
ENST00000638568.2:c.3642A>G ENSP00000491158.2:p.Ter1214=
ENST00000639899.1:n.4458A>G
ENST00000640655.2:c.3642A>G ENSP00000491596.2:p.Ter1214=
ENST00000651249.1:c.775A>G (RAD50)
ENST00000378823.7:c.3939A>G (RAD50) ENSP00000368100.4:p.Ter1313=
ENST00000455677.1:c.388-641A>G (RAD50)
ENST00000533482.5:c.*3565A>G (RAD50) ENSP00000431225.1:n.*3565A>G
NM_005732.3:c.3939A>G (RAD50) NP_005723.2:p.Ter1313=
NR_132125.1:n.105-82T>C (TH2LCRR)
NR_132126.1:n.175-4099T>C (TH2LCRR)
NM_005732.4:c.3939A>G (RAD50) MANE Select NP_005723.2:p.Ter1313=