Canonical Allele Identifier: CA1625492449

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547230T= , CM000668.2:g.45547230T=	GRCh38
NC_000006.11:g.45514967T= , CM000668.1:g.45514967T=	GRCh37
NC_000006.10:g.45622945T=	NCBI36
NG_008020.1:g.223914T=
NG_008020.2:g.223914T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*648T=	ENSP00000496517.1:n.*648T=
ENST00000647337.2:c.1491T= MANE Select	ENSP00000495497.1:p.Asp497=
ENST00000359524.7:c.1449T=	ENSP00000352514.5:p.Asp483=
ENST00000371432.7:c.1425T=	ENSP00000360486.4:p.Asp475=
ENST00000371436.10:c.1425T=	ENSP00000360491.6:p.Asp475=
ENST00000371438.5:c.1491T=	ENSP00000360493.1:p.Asp497=
ENST00000465038.6:c.1491T=	ENSP00000420707.2:p.Asp497=
ENST00000478660.6:c.*178+33577T=	ENSP00000460188.1:n.*178+33577T=
ENST00000576263.5:c.1021+34823T=	ENSP00000458178.1:n.1021+34823T=
ENST00000625924.1:c.1383T=	ENSP00000485863.1:p.Asp461=
NM_001015051.3:c.1425T=	NP_001015051.3:p.Asp475=
NM_001024630.3:c.1491T=	NP_001019801.3:p.Asp497=
NM_001278478.1:c.1383T=	NP_001265407.1:p.Asp461=
XM_006715232.1:c.1275T=	XP_006715295.1:p.Asp425=
XM_011514960.1:c.1225+34823T=	XP_011513262.1:n.1225+34823T=
XM_011514961.1:c.1695T=	XP_011513263.1:p.Asp565=
XM_011514962.1:c.1629T=	XP_011513264.1:p.Asp543=
XM_011514963.1:c.1051+34823T=	XP_011513265.1:n.1051+34823T=
XM_011514964.1:c.1435+260T=	XP_011513266.1:n.1435+260T=
XM_011514966.1:c.553+34823T=	XP_011513268.1:n.553+34823T=
NM_001024630.4:c.1491T= MANE Select	NP_001019801.3:p.Asp497=
NM_001278478.2:c.1383T=	NP_001265407.1:p.Asp461=
NM_001369405.1:c.1449T=	NP_001356334.1:p.Asp483=
NM_001015051.4:c.1425T=	NP_001015051.3:p.Asp475=