Canonical Allele Identifier: CA1625492411

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547129C= , CM000668.2:g.45547129C=	GRCh38
NC_000006.11:g.45514866C= , CM000668.1:g.45514866C=	GRCh37
NC_000006.10:g.45622844C=	NCBI36
NG_008020.1:g.223813C=
NG_008020.2:g.223813C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*547C=	ENSP00000496517.1:n.*547C=
ENST00000647337.2:c.1390C= MANE Select	ENSP00000495497.1:p.Arg464=
ENST00000359524.7:c.1348C=	ENSP00000352514.5:p.Arg450=
ENST00000371432.7:c.1324C=	ENSP00000360486.4:p.Arg442=
ENST00000371436.10:c.1324C=	ENSP00000360491.6:p.Arg442=
ENST00000371438.5:c.1390C=	ENSP00000360493.1:p.Arg464=
ENST00000465038.6:c.1390C=	ENSP00000420707.2:p.Arg464=
ENST00000478660.6:c.*178+33476C=	ENSP00000460188.1:n.*178+33476C=
ENST00000483377.5:c.*911C=	ENSP00000461357.1:n.*911C=
ENST00000576263.5:c.1021+34722C=	ENSP00000458178.1:n.1021+34722C=
ENST00000625924.1:c.1282C=	ENSP00000485863.1:p.Arg428=
NM_001015051.3:c.1324C=	NP_001015051.3:p.Arg442=
NM_001024630.3:c.1390C=	NP_001019801.3:p.Arg464=
NM_001278478.1:c.1282C=	NP_001265407.1:p.Arg428=
XM_006715232.1:c.1174C=	XP_006715295.1:p.Arg392=
XM_011514960.1:c.1225+34722C=	XP_011513262.1:n.1225+34722C=
XM_011514961.1:c.1594C=	XP_011513263.1:p.Arg532=
XM_011514962.1:c.1528C=	XP_011513264.1:p.Arg510=
XM_011514963.1:c.1051+34722C=	XP_011513265.1:n.1051+34722C=
XM_011514964.1:c.1435+159C=	XP_011513266.1:n.1435+159C=
XM_011514966.1:c.553+34722C=	XP_011513268.1:n.553+34722C=
NM_001024630.4:c.1390C= MANE Select	NP_001019801.3:p.Arg464=
NM_001278478.2:c.1282C=	NP_001265407.1:p.Arg428=
NM_001369405.1:c.1348C=	NP_001356334.1:p.Arg450=
NM_001015051.4:c.1324C=	NP_001015051.3:p.Arg442=