Canonical Allele Identifier: CA1625492467
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45547304G= , CM000668.2:g.45547304G= GRCh38
NC_000006.11:g.45515041G= , CM000668.1:g.45515041G= GRCh37
NC_000006.10:g.45623019G= NCBI36
NG_008020.1:g.223988G=
NG_008020.2:g.223988G=

Transcript Alleles

HGVS Amino-acid change
ENST00000646519.1:c.*722G= ENSP00000496517.1:n.*722G=
ENST00000647337.2:c.1565G= MANE Select ENSP00000495497.1:p.Ter522=
ENST00000359524.7:c.1523G= ENSP00000352514.5:p.Ter508=
ENST00000371432.7:c.1499G= ENSP00000360486.4:p.Ter500=
ENST00000371436.10:c.1499G= ENSP00000360491.6:p.Ter500=
ENST00000371438.5:c.1565G= ENSP00000360493.1:p.Ter522=
ENST00000465038.6:c.1565G= ENSP00000420707.2:p.Ter522=
ENST00000478660.6:c.*178+33651G= ENSP00000460188.1:n.*178+33651G=
ENST00000576263.5:c.1021+34897G= ENSP00000458178.1:n.1021+34897G=
ENST00000625924.1:c.1457G= ENSP00000485863.1:p.Ter486=
NM_001015051.3:c.1499G= NP_001015051.3:p.Ter500=
NM_001024630.3:c.1565G= NP_001019801.3:p.Ter522=
NM_001278478.1:c.1457G= NP_001265407.1:p.Ter486=
XM_006715232.1:c.1349G= XP_006715295.1:p.Ter450=
XM_011514960.1:c.1225+34897G= XP_011513262.1:n.1225+34897G=
XM_011514961.1:c.1769G= XP_011513263.1:p.Ter590=
XM_011514962.1:c.1703G= XP_011513264.1:p.Ter568=
XM_011514963.1:c.1051+34897G= XP_011513265.1:n.1051+34897G=
XM_011514964.1:c.1435+334G= XP_011513266.1:n.1435+334G=
XM_011514966.1:c.553+34897G= XP_011513268.1:n.553+34897G=
NM_001024630.4:c.1565G= MANE Select NP_001019801.3:p.Ter522=
NM_001278478.2:c.1457G= NP_001265407.1:p.Ter486=
NM_001369405.1:c.1523G= NP_001356334.1:p.Ter508=
NM_001015051.4:c.1499G= NP_001015051.3:p.Ter500=