Canonical Allele Identifier: CA1625492426

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547173T= , CM000668.2:g.45547173T=	GRCh38
NC_000006.11:g.45514910T= , CM000668.1:g.45514910T=	GRCh37
NC_000006.10:g.45622888T=	NCBI36
NG_008020.1:g.223857T=
NG_008020.2:g.223857T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*591T=	ENSP00000496517.1:n.*591T=
ENST00000647337.2:c.1434T= MANE Select	ENSP00000495497.1:p.Asn478=
ENST00000359524.7:c.1392T=	ENSP00000352514.5:p.Asn464=
ENST00000371432.7:c.1368T=	ENSP00000360486.4:p.Asn456=
ENST00000371436.10:c.1368T=	ENSP00000360491.6:p.Asn456=
ENST00000371438.5:c.1434T=	ENSP00000360493.1:p.Asn478=
ENST00000465038.6:c.1434T=	ENSP00000420707.2:p.Asn478=
ENST00000478660.6:c.*178+33520T=	ENSP00000460188.1:n.*178+33520T=
ENST00000483377.5:c.*955T=	ENSP00000461357.1:n.*955T=
ENST00000576263.5:c.1021+34766T=	ENSP00000458178.1:n.1021+34766T=
ENST00000625924.1:c.1326T=	ENSP00000485863.1:p.Asn442=
NM_001015051.3:c.1368T=	NP_001015051.3:p.Asn456=
NM_001024630.3:c.1434T=	NP_001019801.3:p.Asn478=
NM_001278478.1:c.1326T=	NP_001265407.1:p.Asn442=
XM_006715232.1:c.1218T=	XP_006715295.1:p.Asn406=
XM_011514960.1:c.1225+34766T=	XP_011513262.1:n.1225+34766T=
XM_011514961.1:c.1638T=	XP_011513263.1:p.Asn546=
XM_011514962.1:c.1572T=	XP_011513264.1:p.Asn524=
XM_011514963.1:c.1051+34766T=	XP_011513265.1:n.1051+34766T=
XM_011514964.1:c.1435+203T=	XP_011513266.1:n.1435+203T=
XM_011514966.1:c.553+34766T=	XP_011513268.1:n.553+34766T=
NM_001024630.4:c.1434T= MANE Select	NP_001019801.3:p.Asn478=
NM_001278478.2:c.1326T=	NP_001265407.1:p.Asn442=
NM_001369405.1:c.1392T=	NP_001356334.1:p.Asn464=
NM_001015051.4:c.1368T=	NP_001015051.3:p.Asn456=