Canonical Allele Identifier: CA2520654335

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547447_45547448insGC , CM000668.2:g.45547447_45547448insGC	GRCh38
NC_000006.11:g.45515184_45515185insGC , CM000668.1:g.45515184_45515185insGC	GRCh37
NC_000006.10:g.45623162_45623163insGC	NCBI36
NG_008020.1:g.224131_224132insGC
NG_008020.2:g.224131_224132insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*865_*866insGC	ENSP00000496517.1:n.*865_*866insGC
ENST00000647337.2:c.*142_*143insGC MANE Select	ENSP00000495497.1:n.*142_*143insGC
ENST00000359524.7:c.*142_*143insGC	ENSP00000352514.5:n.*142_*143insGC
ENST00000371432.7:c.*142_*143insGC	ENSP00000360486.4:n.*142_*143insGC
ENST00000371438.5:c.*142_*143insGC	ENSP00000360493.1:n.*142_*143insGC
ENST00000478660.6:c.*178+33794_*178+33795insGC	ENSP00000460188.1:n.*178+33794_*178+33795insGC
ENST00000576263.5:c.1021+35040_1021+35041insGC	ENSP00000458178.1:n.1021+35040_1021+35041insGC
NM_001015051.3:c.*142_*143insGC	NP_001015051.3:n.*142_*143insGC
NM_001024630.3:c.*142_*143insGC	NP_001019801.3:n.*142_*143insGC
NM_001278478.1:c.1600_1601insGC	NP_001265407.1:n.1600_1601insGC
XM_006715232.1:c.*142_*143insGC	XP_006715295.1:n.*142_*143insGC
XM_011514960.1:c.1225+35040_1225+35041insGC	XP_011513262.1:n.1225+35040_1225+35041insGC
XM_011514961.1:c.*142_*143insGC	XP_011513263.1:n.*142_*143insGC
XM_011514962.1:c.*142_*143insGC	XP_011513264.1:n.*142_*143insGC
XM_011514963.1:c.1051+35040_1051+35041insGC	XP_011513265.1:n.1051+35040_1051+35041insGC
XM_011514964.1:c.1435+477_1435+478insGC	XP_011513266.1:n.1435+477_1435+478insGC
XM_011514966.1:c.553+35040_553+35041insGC	XP_011513268.1:n.553+35040_553+35041insGC
NM_001024630.4:c.*142_*143insGC MANE Select	NP_001019801.3:n.*142_*143insGC
NM_001278478.2:c.*142_*143insGC	NP_001265407.1:n.*142_*143insGC
NM_001369405.1:c.*142_*143insGC	NP_001356334.1:n.*142_*143insGC
NM_001015051.4:c.*142_*143insGC	NP_001015051.3:n.*142_*143insGC