Canonical Allele Identifier: CA1625492415
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45547137T= , CM000668.2:g.45547137T= GRCh38
NC_000006.11:g.45514874T= , CM000668.1:g.45514874T= GRCh37
NC_000006.10:g.45622852T= NCBI36
NG_008020.1:g.223821T=
NG_008020.2:g.223821T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000646519.1:c.*555T= ENSP00000496517.1:n.*555T=
ENST00000647337.2:c.1398T= MANE Select ENSP00000495497.1:p.Pro466=
ENST00000359524.7:c.1356T= ENSP00000352514.5:p.Pro452=
ENST00000371432.7:c.1332T= ENSP00000360486.4:p.Pro444=
ENST00000371436.10:c.1332T= ENSP00000360491.6:p.Pro444=
ENST00000371438.5:c.1398T= ENSP00000360493.1:p.Pro466=
ENST00000465038.6:c.1398T= ENSP00000420707.2:p.Pro466=
ENST00000478660.6:c.*178+33484T= ENSP00000460188.1:n.*178+33484T=
ENST00000483377.5:c.*919T= ENSP00000461357.1:n.*919T=
ENST00000576263.5:c.1021+34730T= ENSP00000458178.1:n.1021+34730T=
ENST00000625924.1:c.1290T= ENSP00000485863.1:p.Pro430=
NM_001015051.3:c.1332T= NP_001015051.3:p.Pro444=
NM_001024630.3:c.1398T= NP_001019801.3:p.Pro466=
NM_001278478.1:c.1290T= NP_001265407.1:p.Pro430=
XM_006715232.1:c.1182T= XP_006715295.1:p.Pro394=
XM_011514960.1:c.1225+34730T= XP_011513262.1:n.1225+34730T=
XM_011514961.1:c.1602T= XP_011513263.1:p.Pro534=
XM_011514962.1:c.1536T= XP_011513264.1:p.Pro512=
XM_011514963.1:c.1051+34730T= XP_011513265.1:n.1051+34730T=
XM_011514964.1:c.1435+167T= XP_011513266.1:n.1435+167T=
XM_011514966.1:c.553+34730T= XP_011513268.1:n.553+34730T=
NM_001024630.4:c.1398T= MANE Select NP_001019801.3:p.Pro466=
NM_001278478.2:c.1290T= NP_001265407.1:p.Pro430=
NM_001369405.1:c.1356T= NP_001356334.1:p.Pro452=
NM_001015051.4:c.1332T= NP_001015051.3:p.Pro444=