Canonical Allele Identifier: CA1625449375
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45442575T>G , CM000668.2:g.45442575T>G GRCh38
NC_000006.11:g.45410312T>G , CM000668.1:g.45410312T>G GRCh37
NC_000006.10:g.45518290T>G NCBI36
NG_008020.1:g.119259T>G
NG_008020.2:g.119259T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000646519.1:c.643+4524T>G ENSP00000496517.1:n.643+4524T>G
ENST00000647337.2:c.685+4524T>G MANE Select ENSP00000495497.1:n.685+4524T>G
ENST00000359524.7:c.643+4524T>G ENSP00000352514.5:n.643+4524T>G
ENST00000371432.7:c.685+4524T>G ENSP00000360486.4:n.685+4524T>G
ENST00000371436.10:c.685+4524T>G ENSP00000360491.6:n.685+4524T>G
ENST00000371438.5:c.685+4524T>G ENSP00000360493.1:n.685+4524T>G
ENST00000465038.6:c.685+4524T>G ENSP00000420707.2:n.685+4524T>G
ENST00000478660.6:c.643+4524T>G ENSP00000460188.1:n.643+4524T>G
ENST00000483377.5:c.*206+4524T>G ENSP00000461357.1:n.*206+4524T>G
ENST00000576263.5:c.685+4524T>G ENSP00000458178.1:n.685+4524T>G
ENST00000625924.1:c.643+4524T>G ENSP00000485863.1:n.643+4524T>G
NM_001015051.3:c.685+4524T>G NP_001015051.3:n.685+4524T>G
NM_001024630.3:c.685+4524T>G NP_001019801.3:n.685+4524T>G
NM_001278478.1:c.643+4524T>G NP_001265407.1:n.643+4524T>G
XM_006715232.1:c.643+4524T>G XP_006715295.1:n.643+4524T>G
XM_011514960.1:c.889+4524T>G XP_011513262.1:n.889+4524T>G
XM_011514961.1:c.889+4524T>G XP_011513263.1:n.889+4524T>G
XM_011514962.1:c.889+4524T>G XP_011513264.1:n.889+4524T>G
XM_011514963.1:c.889+4524T>G XP_011513265.1:n.889+4524T>G
XM_011514964.1:c.889+4524T>G XP_011513266.1:n.889+4524T>G
XM_011514965.1:c.889+4524T>G XP_011513267.1:n.889+4524T>G
XM_011514966.1:c.217+4524T>G XP_011513268.1:n.217+4524T>G
XM_011514967.1:c.972+3878T>G XP_011513269.1:n.972+3878T>G
XM_011514968.1:c.889+4524T>G XP_011513270.1:n.889+4524T>G
XR_926323.1:n.1401+4524T>G
NM_001024630.4:c.685+4524T>G MANE Select NP_001019801.3:n.685+4524T>G
NM_001278478.2:c.643+4524T>G NP_001265407.1:n.643+4524T>G
NM_001369405.1:c.643+4524T>G NP_001356334.1:n.643+4524T>G
NM_001015051.4:c.685+4524T>G NP_001015051.3:n.685+4524T>G