Canonical Allele Identifier: CA16618292
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45547014dup , CM000668.2:g.45547014dup GRCh38
NC_000006.11:g.45514751dup , CM000668.1:g.45514751dup GRCh37
NC_000006.10:g.45622729dup NCBI36
NG_008020.1:g.223698dup
NG_008020.2:g.223698dup

Transcript Alleles

HGVS Amino-acid Change
NM_001024630.4:c.1275dup MANE Select NP_001019801.3:p.Tyr426LeufsTer?
ENST00000647337.2:c.1275dup MANE Select ENSP00000495497.1:p.Tyr426LeufsTer?
NM_001015051.3:c.1209dup NP_001015051.3:p.Tyr404LeufsTer?
NM_001015051.4:c.1209dup NP_001015051.3:p.Tyr404LeufsTer?
NM_001024630.3:c.1275dup NP_001019801.3:p.Tyr426LeufsTer?
NM_001278478.1:c.1167dup NP_001265407.1:p.Tyr390LeufsTer?
NM_001278478.2:c.1167dup NP_001265407.1:p.Tyr390LeufsTer?
NM_001369405.1:c.1233dup NP_001356334.1:p.Tyr412LeufsTer?
ENST00000359524.7:c.1233dup ENSP00000352514.5:p.Tyr412LeufsTer?
ENST00000371432.7:c.1209dup ENSP00000360486.4:p.Tyr404LeufsTer?
ENST00000371436.10:c.1209dup ENSP00000360491.6:p.Tyr404LeufsTer?
ENST00000371438.5:c.1275dup ENSP00000360493.1:p.Tyr426LeufsTer?
ENST00000465038.6:c.1275dup ENSP00000420707.2:p.Tyr426LeufsTer?
ENST00000478660.6:c.*178+33361dup ENSP00000460188.1:n.*178+33361dup
ENST00000483377.5:c.*796dup ENSP00000461357.1:n.*796dup
ENST00000576263.5:c.1021+34607dup ENSP00000458178.1:n.1021+34607dup
ENST00000625924.1:c.1167dup ENSP00000485863.1:p.Tyr390LeufsTer?
ENST00000646519.1:c.*432dup ENSP00000496517.1:n.*432dup
XM_006715232.1:c.1059dup XP_006715295.1:p.Tyr354LeufsTer?
XM_011514960.1:c.1225+34607dup XP_011513262.1:n.1225+34607dup
XM_011514961.1:c.1479dup XP_011513263.1:p.Tyr494LeufsTer?
XM_011514962.1:c.1413dup XP_011513264.1:p.Tyr472LeufsTer?
XM_011514963.1:c.1051+34607dup XP_011513265.1:n.1051+34607dup
XM_011514964.1:c.1435+44dup XP_011513266.1:n.1435+44dup
XM_011514966.1:c.553+34607dup XP_011513268.1:n.553+34607dup