Canonical Allele Identifier: CA1625492410

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547126G= , CM000668.2:g.45547126G=	GRCh38
NC_000006.11:g.45514863G= , CM000668.1:g.45514863G=	GRCh37
NC_000006.10:g.45622841G=	NCBI36
NG_008020.1:g.223810G=
NG_008020.2:g.223810G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*544G=	ENSP00000496517.1:n.*544G=
ENST00000647337.2:c.1387G= MANE Select	ENSP00000495497.1:p.Asp463=
ENST00000359524.7:c.1345G=	ENSP00000352514.5:p.Asp449=
ENST00000371432.7:c.1321G=	ENSP00000360486.4:p.Asp441=
ENST00000371436.10:c.1321G=	ENSP00000360491.6:p.Asp441=
ENST00000371438.5:c.1387G=	ENSP00000360493.1:p.Asp463=
ENST00000465038.6:c.1387G=	ENSP00000420707.2:p.Asp463=
ENST00000478660.6:c.*178+33473G=	ENSP00000460188.1:n.*178+33473G=
ENST00000483377.5:c.*908G=	ENSP00000461357.1:n.*908G=
ENST00000576263.5:c.1021+34719G=	ENSP00000458178.1:n.1021+34719G=
ENST00000625924.1:c.1279G=	ENSP00000485863.1:p.Asp427=
NM_001015051.3:c.1321G=	NP_001015051.3:p.Asp441=
NM_001024630.3:c.1387G=	NP_001019801.3:p.Asp463=
NM_001278478.1:c.1279G=	NP_001265407.1:p.Asp427=
XM_006715232.1:c.1171G=	XP_006715295.1:p.Asp391=
XM_011514960.1:c.1225+34719G=	XP_011513262.1:n.1225+34719G=
XM_011514961.1:c.1591G=	XP_011513263.1:p.Asp531=
XM_011514962.1:c.1525G=	XP_011513264.1:p.Asp509=
XM_011514963.1:c.1051+34719G=	XP_011513265.1:n.1051+34719G=
XM_011514964.1:c.1435+156G=	XP_011513266.1:n.1435+156G=
XM_011514966.1:c.553+34719G=	XP_011513268.1:n.553+34719G=
NM_001024630.4:c.1387G= MANE Select	NP_001019801.3:p.Asp463=
NM_001278478.2:c.1279G=	NP_001265407.1:p.Asp427=
NM_001369405.1:c.1345G=	NP_001356334.1:p.Asp449=
NM_001015051.4:c.1321G=	NP_001015051.3:p.Asp441=