Canonical Allele Identifier: CA1625492417
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45547149T= , CM000668.2:g.45547149T= GRCh38
NC_000006.11:g.45514886T= , CM000668.1:g.45514886T= GRCh37
NC_000006.10:g.45622864T= NCBI36
NG_008020.1:g.223833T=
NG_008020.2:g.223833T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000646519.1:c.*567T= ENSP00000496517.1:n.*567T=
ENST00000647337.2:c.1410T= MANE Select ENSP00000495497.1:p.Leu470=
ENST00000359524.7:c.1368T= ENSP00000352514.5:p.Leu456=
ENST00000371432.7:c.1344T= ENSP00000360486.4:p.Leu448=
ENST00000371436.10:c.1344T= ENSP00000360491.6:p.Leu448=
ENST00000371438.5:c.1410T= ENSP00000360493.1:p.Leu470=
ENST00000465038.6:c.1410T= ENSP00000420707.2:p.Leu470=
ENST00000478660.6:c.*178+33496T= ENSP00000460188.1:n.*178+33496T=
ENST00000483377.5:c.*931T= ENSP00000461357.1:n.*931T=
ENST00000576263.5:c.1021+34742T= ENSP00000458178.1:n.1021+34742T=
ENST00000625924.1:c.1302T= ENSP00000485863.1:p.Leu434=
NM_001015051.3:c.1344T= NP_001015051.3:p.Leu448=
NM_001024630.3:c.1410T= NP_001019801.3:p.Leu470=
NM_001278478.1:c.1302T= NP_001265407.1:p.Leu434=
XM_006715232.1:c.1194T= XP_006715295.1:p.Leu398=
XM_011514960.1:c.1225+34742T= XP_011513262.1:n.1225+34742T=
XM_011514961.1:c.1614T= XP_011513263.1:p.Leu538=
XM_011514962.1:c.1548T= XP_011513264.1:p.Leu516=
XM_011514963.1:c.1051+34742T= XP_011513265.1:n.1051+34742T=
XM_011514964.1:c.1435+179T= XP_011513266.1:n.1435+179T=
XM_011514966.1:c.553+34742T= XP_011513268.1:n.553+34742T=
NM_001024630.4:c.1410T= MANE Select NP_001019801.3:p.Leu470=
NM_001278478.2:c.1302T= NP_001265407.1:p.Leu434=
NM_001369405.1:c.1368T= NP_001356334.1:p.Leu456=
NM_001015051.4:c.1344T= NP_001015051.3:p.Leu448=