Canonical Allele Identifier: CA1625471253
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45497933_45497934delinsAT , CM000668.2:g.45497933_45497934delinsAT GRCh38
NC_000006.11:g.45465670_45465671delinsAT , CM000668.1:g.45465670_45465671delinsAT GRCh37
NC_000006.10:g.45573648_45573649delinsAT NCBI36
NG_008020.1:g.174617_174618delinsAT
NG_008020.2:g.174617_174618delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000646519.1:c.817+5819_817+5820delinsAT ENSP00000496517.1:n.817+5819_817+5820delinsAT
ENST00000647337.2:c.859+5819_859+5820delinsAT MANE Select ENSP00000495497.1:n.859+5819_859+5820delinsAT
ENST00000359524.7:c.817+5819_817+5820delinsAT ENSP00000352514.5:n.817+5819_817+5820delinsAT
ENST00000371432.7:c.859+5819_859+5820delinsAT ENSP00000360486.4:n.859+5819_859+5820delinsAT
ENST00000371436.10:c.859+5819_859+5820delinsAT ENSP00000360491.6:n.859+5819_859+5820delinsAT
ENST00000371438.5:c.859+5819_859+5820delinsAT ENSP00000360493.1:n.859+5819_859+5820delinsAT
ENST00000465038.6:c.859+5819_859+5820delinsAT ENSP00000420707.2:n.859+5819_859+5820delinsAT
ENST00000478660.6:c.644-14313_644-14312delinsAT ENSP00000460188.1:n.644-14313_644-14312delinsAT
ENST00000483377.5:c.*380+5819_*380+5820delinsAT ENSP00000461357.1:n.*380+5819_*380+5820delinsAT
ENST00000576263.5:c.859+5819_859+5820delinsAT ENSP00000458178.1:n.859+5819_859+5820delinsAT
ENST00000625924.1:c.817+5819_817+5820delinsAT ENSP00000485863.1:n.817+5819_817+5820delinsAT
NM_001015051.3:c.859+5819_859+5820delinsAT NP_001015051.3:n.859+5819_859+5820delinsAT
NM_001024630.3:c.859+5819_859+5820delinsAT NP_001019801.3:n.859+5819_859+5820delinsAT
NM_001278478.1:c.817+5819_817+5820delinsAT NP_001265407.1:n.817+5819_817+5820delinsAT
XM_006715232.1:c.644-14313_644-14312delinsAT XP_006715295.1:n.644-14313_644-14312delinsAT
XM_011514960.1:c.1063+5819_1063+5820delinsAT XP_011513262.1:n.1063+5819_1063+5820delinsAT
XM_011514961.1:c.1063+5819_1063+5820delinsAT XP_011513263.1:n.1063+5819_1063+5820delinsAT
XM_011514962.1:c.1063+5819_1063+5820delinsAT XP_011513264.1:n.1063+5819_1063+5820delinsAT
XM_011514963.1:c.890-14313_890-14312delinsAT XP_011513265.1:n.890-14313_890-14312delinsAT
XM_011514964.1:c.1063+5819_1063+5820delinsAT XP_011513266.1:n.1063+5819_1063+5820delinsAT
XM_011514965.1:c.1063+5819_1063+5820delinsAT XP_011513267.1:n.1063+5819_1063+5820delinsAT
XM_011514966.1:c.391+5819_391+5820delinsAT XP_011513268.1:n.391+5819_391+5820delinsAT
XR_926323.1:n.1657+4971_1657+4972delinsAT
NM_001024630.4:c.859+5819_859+5820delinsAT MANE Select NP_001019801.3:n.859+5819_859+5820delinsAT
NM_001278478.2:c.817+5819_817+5820delinsAT NP_001265407.1:n.817+5819_817+5820delinsAT
NM_001369405.1:c.817+5819_817+5820delinsAT NP_001356334.1:n.817+5819_817+5820delinsAT
NM_001015051.4:c.859+5819_859+5820delinsAT NP_001015051.3:n.859+5819_859+5820delinsAT