Canonical Allele Identifier: CA1625492460

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547272C= , CM000668.2:g.45547272C=	GRCh38
NC_000006.11:g.45515009C= , CM000668.1:g.45515009C=	GRCh37
NC_000006.10:g.45622987C=	NCBI36
NG_008020.1:g.223956C=
NG_008020.2:g.223956C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*690C=	ENSP00000496517.1:n.*690C=
ENST00000647337.2:c.1533C= MANE Select	ENSP00000495497.1:p.Gly511=
ENST00000359524.7:c.1491C=	ENSP00000352514.5:p.Gly497=
ENST00000371432.7:c.1467C=	ENSP00000360486.4:p.Gly489=
ENST00000371436.10:c.1467C=	ENSP00000360491.6:p.Gly489=
ENST00000371438.5:c.1533C=	ENSP00000360493.1:p.Gly511=
ENST00000465038.6:c.1533C=	ENSP00000420707.2:p.Gly511=
ENST00000478660.6:c.*178+33619C=	ENSP00000460188.1:n.*178+33619C=
ENST00000576263.5:c.1021+34865C=	ENSP00000458178.1:n.1021+34865C=
ENST00000625924.1:c.1425C=	ENSP00000485863.1:p.Gly475=
NM_001015051.3:c.1467C=	NP_001015051.3:p.Gly489=
NM_001024630.3:c.1533C=	NP_001019801.3:p.Gly511=
NM_001278478.1:c.1425C=	NP_001265407.1:p.Gly475=
XM_006715232.1:c.1317C=	XP_006715295.1:p.Gly439=
XM_011514960.1:c.1225+34865C=	XP_011513262.1:n.1225+34865C=
XM_011514961.1:c.1737C=	XP_011513263.1:p.Gly579=
XM_011514962.1:c.1671C=	XP_011513264.1:p.Gly557=
XM_011514963.1:c.1051+34865C=	XP_011513265.1:n.1051+34865C=
XM_011514964.1:c.1435+302C=	XP_011513266.1:n.1435+302C=
XM_011514966.1:c.553+34865C=	XP_011513268.1:n.553+34865C=
NM_001024630.4:c.1533C= MANE Select	NP_001019801.3:p.Gly511=
NM_001278478.2:c.1425C=	NP_001265407.1:p.Gly475=
NM_001369405.1:c.1491C=	NP_001356334.1:p.Gly497=
NM_001015051.4:c.1467C=	NP_001015051.3:p.Gly489=