Canonical Allele Identifier: CA2695206350
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45437959_45437967del , CM000668.2:g.45437959_45437967del GRCh38
NC_000006.11:g.45405696_45405704del , CM000668.1:g.45405696_45405704del GRCh37
NC_000006.10:g.45513674_45513682del NCBI36
NG_008020.1:g.114643_114651del
NG_008020.2:g.114643_114651del

Transcript Alleles

HGVS Amino-acid Change
ENST00000646519.1:c.551_559del ENSP00000496517.1:p.Thr184_Thr186del
ENST00000647337.2:c.593_601del MANE Select ENSP00000495497.1:p.Thr198_Thr200del
ENST00000359524.7:c.551_559del ENSP00000352514.5:p.Thr184_Thr186del
ENST00000371432.7:c.593_601del ENSP00000360486.4:p.Thr198_Thr200del
ENST00000371436.10:c.593_601del ENSP00000360491.6:p.Thr198_Thr200del
ENST00000371438.5:c.593_601del ENSP00000360493.1:p.Thr198_Thr200del
ENST00000465038.6:c.593_601del ENSP00000420707.2:p.Thr198_Thr200del
ENST00000478660.6:c.551_559del ENSP00000460188.1:p.Thr184_Thr186del
ENST00000483377.5:c.*114_*122del ENSP00000461357.1:n.*114_*122del
ENST00000576263.5:c.593_601del ENSP00000458178.1:p.Thr198_Thr200del
ENST00000625924.1:c.551_559del ENSP00000485863.1:p.Thr184_Thr186del
NM_001015051.3:c.593_601del NP_001015051.3:p.Thr198_Thr200del
NM_001024630.3:c.593_601del NP_001019801.3:p.Thr198_Thr200del
NM_001278478.1:c.551_559del NP_001265407.1:p.Thr184_Thr186del
XM_006715232.1:c.551_559del XP_006715295.1:p.Thr184_Thr186del
XM_011514960.1:c.797_805del XP_011513262.1:p.Thr266_Thr268del
XM_011514961.1:c.797_805del XP_011513263.1:p.Thr266_Thr268del
XM_011514962.1:c.797_805del XP_011513264.1:p.Thr266_Thr268del
XM_011514963.1:c.797_805del XP_011513265.1:p.Thr266_Thr268del
XM_011514964.1:c.797_805del XP_011513266.1:p.Thr266_Thr268del
XM_011514965.1:c.797_805del XP_011513267.1:p.Thr266_Thr268del
XM_011514966.1:c.125_133del XP_011513268.1:p.Thr42_Thr44del
XM_011514967.1:c.797_805del XP_011513269.1:p.Thr266_Thr268del
XM_011514968.1:c.797_805del XP_011513270.1:p.Thr266_Thr268del
XR_926323.1:n.1309_1317del
NM_001024630.4:c.593_601del MANE Select NP_001019801.3:p.Thr198_Thr200del
NM_001278478.2:c.551_559del NP_001265407.1:p.Thr184_Thr186del
NM_001369405.1:c.551_559del NP_001356334.1:p.Thr184_Thr186del
NM_001015051.4:c.593_601del NP_001015051.3:p.Thr198_Thr200del