Canonical Allele Identifier: CA461836136
Community Standard Title: NM_002485.5(NBN):c.2260A>C (p.Arg754=)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89935587T>G , CM000670.2:g.89935587T>G GRCh38
NC_000008.10:g.90947815T>G , CM000670.1:g.90947815T>G GRCh37
NC_000008.9:g.91016991T>G NCBI36
NG_008860.1:g.54085A>C , LRG_158:g.54085A>C

Transcript Alleles

HGVS Amino-acid Change
NM_002485.5:c.2260A>C (NBN) MANE Select NP_002476.2:p.Arg754=
ENST00000265433.8:c.2260A>C (NBN) MANE Select ENSP00000265433.4:p.Arg754=
NM_001024688.2:c.2014A>C (NBN) NP_001019859.1:p.Arg672=
NM_001024688.3:c.2014A>C (NBN) NP_001019859.1:p.Arg672=
NM_002485.4:c.2260A>C , LRG_158t1:c.2260A>C (NBN) NP_002476.2:p.Arg754=
ENST00000265433.7:c.2260A>C (NBN) ENSP00000265433.3:p.Arg754=
ENST00000396252.6:c.*2133A>C (NBN) ENSP00000379551.2:n.*2133A>C
ENST00000409330.5:c.2014A>C (NBN) ENSP00000386924.1:p.Arg672=
ENST00000474821.1:n.348A>C (NBN)
ENST00000474821.2:n.3680A>C (NBN)
ENST00000494804.2:n.3562A>C (NBN)
ENST00000517337.2:c.2014A>C (NBN) ENSP00000429971.2:p.Arg672=
ENST00000523444.2:c.2014A>C (NBN) ENSP00000428252.2:p.Arg672=
ENST00000613033.1:c.370A>C (NBN) ENSP00000484487.1:p.Arg124=
ENST00000697292.1:c.2260A>C (NBN) ENSP00000513229.1:p.Arg754=
ENST00000697293.1:c.2311A>C (NBN) ENSP00000513230.1:p.Arg771=
ENST00000697294.1:c.*1871A>C (NBN) ENSP00000513231.1:n.*1871A>C
ENST00000697295.1:c.*1569A>C (NBN) ENSP00000513232.1:n.*1569A>C
ENST00000697296.1:c.*1928A>C (NBN) ENSP00000513233.1:n.*1928A>C
ENST00000697297.1:n.4045A>C (NBN)
ENST00000697298.1:c.2014A>C (NBN) ENSP00000513234.1:p.Arg672=
ENST00000697299.1:c.2014A>C (NBN) ENSP00000513235.1:p.Arg672=
ENST00000697300.1:c.*1864A>C (NBN) ENSP00000513236.1:n.*1864A>C
ENST00000697301.1:c.*1781A>C (NBN) ENSP00000513237.1:n.*1781A>C
ENST00000697302.1:c.*1781A>C (NBN) ENSP00000513238.1:n.*1781A>C
ENST00000697303.1:c.*1864A>C (NBN) ENSP00000513239.1:n.*1864A>C
ENST00000697304.1:c.1948A>C (NBN) ENSP00000513240.1:p.Arg650=
ENST00000697305.1:n.2527A>C (NBN)
ENST00000697306.1:c.*2811A>C (NBN) ENSP00000513241.1:n.*2811A>C
ENST00000697307.1:c.2035A>C (NBN) ENSP00000513242.1:p.Arg679=
ENST00000697308.1:c.2191A>C (NBN) ENSP00000513243.1:p.Arg731=
ENST00000697309.1:c.2210A>C (NBN) ENSP00000513244.1:p.Lys737Thr
ENST00000697310.1:c.2260A>C (NBN) ENSP00000513245.1:p.Arg754=
ENST00000697311.1:c.*525A>C (NBN) ENSP00000513246.1:n.*525A>C
ENST00000697312.1:c.*1713A>C (NBN) ENSP00000513247.1:n.*1713A>C
ENST00000697313.1:n.2713A>C (NBN)
ENST00000697314.1:n.3662A>C (NBN)
ENST00000697315.1:c.*164A>C (NBN) ENSP00000513248.1:n.*164A>C
XM_011517044.1:c.2236A>C (NBN) XP_011515346.1:p.Arg746=
XM_011517045.1:c.2014A>C (NBN) XP_011515347.1:p.Arg672=
XM_011517287.3:c.*10055T>G (OSGIN2) XP_011515589.1:n.*10055T>G
XM_011517288.3:c.*10055T>G (OSGIN2) XP_011515590.1:n.*10055T>G
XM_017013460.1:c.1381A>C (NBN) XP_016868949.1:p.Arg461=
XM_017013462.2:c.1381A>C (NBN) XP_016868951.1:p.Arg461=
XM_024447163.1:c.2014A>C (NBN) XP_024302931.1:p.Arg672=
XM_024447164.1:c.2014A>C (NBN) XP_024302932.1:p.Arg672=
XM_024447165.1:c.1381A>C (NBN) XP_024302933.1:p.Arg461=