Canonical Allele Identifier: CA1625492463

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547293G= , CM000668.2:g.45547293G=	GRCh38
NC_000006.11:g.45515030G= , CM000668.1:g.45515030G=	GRCh37
NC_000006.10:g.45623008G=	NCBI36
NG_008020.1:g.223977G=
NG_008020.2:g.223977G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*711G=	ENSP00000496517.1:n.*711G=
ENST00000647337.2:c.1554G= MANE Select	ENSP00000495497.1:p.Trp518=
ENST00000359524.7:c.1512G=	ENSP00000352514.5:p.Trp504=
ENST00000371432.7:c.1488G=	ENSP00000360486.4:p.Trp496=
ENST00000371436.10:c.1488G=	ENSP00000360491.6:p.Trp496=
ENST00000371438.5:c.1554G=	ENSP00000360493.1:p.Trp518=
ENST00000465038.6:c.1554G=	ENSP00000420707.2:p.Trp518=
ENST00000478660.6:c.*178+33640G=	ENSP00000460188.1:n.*178+33640G=
ENST00000576263.5:c.1021+34886G=	ENSP00000458178.1:n.1021+34886G=
ENST00000625924.1:c.1446G=	ENSP00000485863.1:p.Trp482=
NM_001015051.3:c.1488G=	NP_001015051.3:p.Trp496=
NM_001024630.3:c.1554G=	NP_001019801.3:p.Trp518=
NM_001278478.1:c.1446G=	NP_001265407.1:p.Trp482=
XM_006715232.1:c.1338G=	XP_006715295.1:p.Trp446=
XM_011514960.1:c.1225+34886G=	XP_011513262.1:n.1225+34886G=
XM_011514961.1:c.1758G=	XP_011513263.1:p.Trp586=
XM_011514962.1:c.1692G=	XP_011513264.1:p.Trp564=
XM_011514963.1:c.1051+34886G=	XP_011513265.1:n.1051+34886G=
XM_011514964.1:c.1435+323G=	XP_011513266.1:n.1435+323G=
XM_011514966.1:c.553+34886G=	XP_011513268.1:n.553+34886G=
NM_001024630.4:c.1554G= MANE Select	NP_001019801.3:p.Trp518=
NM_001278478.2:c.1446G=	NP_001265407.1:p.Trp482=
NM_001369405.1:c.1512G=	NP_001356334.1:p.Trp504=
NM_001015051.4:c.1488G=	NP_001015051.3:p.Trp496=