Canonical Allele Identifier: CA1625492413

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547135C= , CM000668.2:g.45547135C=	GRCh38
NC_000006.11:g.45514872C= , CM000668.1:g.45514872C=	GRCh37
NC_000006.10:g.45622850C=	NCBI36
NG_008020.1:g.223819C=
NG_008020.2:g.223819C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*553C=	ENSP00000496517.1:n.*553C=
ENST00000647337.2:c.1396C= MANE Select	ENSP00000495497.1:p.Pro466=
ENST00000359524.7:c.1354C=	ENSP00000352514.5:p.Pro452=
ENST00000371432.7:c.1330C=	ENSP00000360486.4:p.Pro444=
ENST00000371436.10:c.1330C=	ENSP00000360491.6:p.Pro444=
ENST00000371438.5:c.1396C=	ENSP00000360493.1:p.Pro466=
ENST00000465038.6:c.1396C=	ENSP00000420707.2:p.Pro466=
ENST00000478660.6:c.*178+33482C=	ENSP00000460188.1:n.*178+33482C=
ENST00000483377.5:c.*917C=	ENSP00000461357.1:n.*917C=
ENST00000576263.5:c.1021+34728C=	ENSP00000458178.1:n.1021+34728C=
ENST00000625924.1:c.1288C=	ENSP00000485863.1:p.Pro430=
NM_001015051.3:c.1330C=	NP_001015051.3:p.Pro444=
NM_001024630.3:c.1396C=	NP_001019801.3:p.Pro466=
NM_001278478.1:c.1288C=	NP_001265407.1:p.Pro430=
XM_006715232.1:c.1180C=	XP_006715295.1:p.Pro394=
XM_011514960.1:c.1225+34728C=	XP_011513262.1:n.1225+34728C=
XM_011514961.1:c.1600C=	XP_011513263.1:p.Pro534=
XM_011514962.1:c.1534C=	XP_011513264.1:p.Pro512=
XM_011514963.1:c.1051+34728C=	XP_011513265.1:n.1051+34728C=
XM_011514964.1:c.1435+165C=	XP_011513266.1:n.1435+165C=
XM_011514966.1:c.553+34728C=	XP_011513268.1:n.553+34728C=
NM_001024630.4:c.1396C= MANE Select	NP_001019801.3:p.Pro466=
NM_001278478.2:c.1288C=	NP_001265407.1:p.Pro430=
NM_001369405.1:c.1354C=	NP_001356334.1:p.Pro452=
NM_001015051.4:c.1330C=	NP_001015051.3:p.Pro444=