Canonical Allele Identifier: CA1625471230
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45497856_45497857delinsTC , CM000668.2:g.45497856_45497857delinsTC GRCh38
NC_000006.11:g.45465593_45465594delinsTC , CM000668.1:g.45465593_45465594delinsTC GRCh37
NC_000006.10:g.45573571_45573572delinsTC NCBI36
NG_008020.1:g.174540_174541delinsTC
NG_008020.2:g.174540_174541delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000646519.1:c.817+5742_817+5743delinsTC ENSP00000496517.1:n.817+5742_817+5743delinsTC
ENST00000647337.2:c.859+5742_859+5743delinsTC MANE Select ENSP00000495497.1:n.859+5742_859+5743delinsTC
ENST00000359524.7:c.817+5742_817+5743delinsTC ENSP00000352514.5:n.817+5742_817+5743delinsTC
ENST00000371432.7:c.859+5742_859+5743delinsTC ENSP00000360486.4:n.859+5742_859+5743delinsTC
ENST00000371436.10:c.859+5742_859+5743delinsTC ENSP00000360491.6:n.859+5742_859+5743delinsTC
ENST00000371438.5:c.859+5742_859+5743delinsTC ENSP00000360493.1:n.859+5742_859+5743delinsTC
ENST00000465038.6:c.859+5742_859+5743delinsTC ENSP00000420707.2:n.859+5742_859+5743delinsTC
ENST00000478660.6:c.644-14390_644-14389delinsTC ENSP00000460188.1:n.644-14390_644-14389delinsTC
ENST00000483377.5:c.*380+5742_*380+5743delinsTC ENSP00000461357.1:n.*380+5742_*380+5743delinsTC
ENST00000576263.5:c.859+5742_859+5743delinsTC ENSP00000458178.1:n.859+5742_859+5743delinsTC
ENST00000625924.1:c.817+5742_817+5743delinsTC ENSP00000485863.1:n.817+5742_817+5743delinsTC
NM_001015051.3:c.859+5742_859+5743delinsTC NP_001015051.3:n.859+5742_859+5743delinsTC
NM_001024630.3:c.859+5742_859+5743delinsTC NP_001019801.3:n.859+5742_859+5743delinsTC
NM_001278478.1:c.817+5742_817+5743delinsTC NP_001265407.1:n.817+5742_817+5743delinsTC
XM_006715232.1:c.644-14390_644-14389delinsTC XP_006715295.1:n.644-14390_644-14389delinsTC
XM_011514960.1:c.1063+5742_1063+5743delinsTC XP_011513262.1:n.1063+5742_1063+5743delinsTC
XM_011514961.1:c.1063+5742_1063+5743delinsTC XP_011513263.1:n.1063+5742_1063+5743delinsTC
XM_011514962.1:c.1063+5742_1063+5743delinsTC XP_011513264.1:n.1063+5742_1063+5743delinsTC
XM_011514963.1:c.890-14390_890-14389delinsTC XP_011513265.1:n.890-14390_890-14389delinsTC
XM_011514964.1:c.1063+5742_1063+5743delinsTC XP_011513266.1:n.1063+5742_1063+5743delinsTC
XM_011514965.1:c.1063+5742_1063+5743delinsTC XP_011513267.1:n.1063+5742_1063+5743delinsTC
XM_011514966.1:c.391+5742_391+5743delinsTC XP_011513268.1:n.391+5742_391+5743delinsTC
XR_926323.1:n.1657+4894_1657+4895delinsTC
NM_001024630.4:c.859+5742_859+5743delinsTC MANE Select NP_001019801.3:n.859+5742_859+5743delinsTC
NM_001278478.2:c.817+5742_817+5743delinsTC NP_001265407.1:n.817+5742_817+5743delinsTC
NM_001369405.1:c.817+5742_817+5743delinsTC NP_001356334.1:n.817+5742_817+5743delinsTC
NM_001015051.4:c.859+5742_859+5743delinsTC NP_001015051.3:n.859+5742_859+5743delinsTC