Canonical Allele Identifier: CA280138

Gene: RUNX2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45438040G>A , CM000668.2:g.45438040G>A	GRCh38
NC_000006.11:g.45405777G>A , CM000668.1:g.45405777G>A	GRCh37
NC_000006.10:g.45513755G>A	NCBI36
NG_008020.1:g.114724G>A
NG_008020.2:g.114724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.632G>A	ENSP00000496517.1:p.Arg211Gln
ENST00000647337.2:c.674G>A MANE Select	ENSP00000495497.1:p.Arg225Gln
ENST00000359524.7:c.632G>A	ENSP00000352514.5:p.Arg211Gln
ENST00000371432.7:c.674G>A	ENSP00000360486.4:p.Arg225Gln
ENST00000371436.10:c.674G>A	ENSP00000360491.6:p.Arg225Gln
ENST00000371438.5:c.674G>A	ENSP00000360493.1:p.Arg225Gln
ENST00000465038.6:c.674G>A	ENSP00000420707.2:p.Arg225Gln
ENST00000478660.6:c.632G>A	ENSP00000460188.1:p.Arg211Gln
ENST00000483377.5:c.*195G>A	ENSP00000461357.1:n.*195G>A
ENST00000576263.5:c.674G>A	ENSP00000458178.1:p.Arg225Gln
ENST00000625924.1:c.632G>A	ENSP00000485863.1:p.Arg211Gln
NM_001015051.3:c.674G>A	NP_001015051.3:p.Arg225Gln
NM_001024630.3:c.674G>A	NP_001019801.3:p.Arg225Gln
NM_001278478.1:c.632G>A	NP_001265407.1:p.Arg211Gln
XM_006715232.1:c.632G>A	XP_006715295.1:p.Arg211Gln
XM_011514960.1:c.878G>A	XP_011513262.1:p.Arg293Gln
XM_011514961.1:c.878G>A	XP_011513263.1:p.Arg293Gln
XM_011514962.1:c.878G>A	XP_011513264.1:p.Arg293Gln
XM_011514963.1:c.878G>A	XP_011513265.1:p.Arg293Gln
XM_011514964.1:c.878G>A	XP_011513266.1:p.Arg293Gln
XM_011514965.1:c.878G>A	XP_011513267.1:p.Arg293Gln
XM_011514966.1:c.206G>A	XP_011513268.1:p.Arg69Gln
XM_011514967.1:c.878G>A	XP_011513269.1:p.Arg293Gln
XM_011514968.1:c.878G>A	XP_011513270.1:p.Arg293Gln
XR_926323.1:n.1390G>A
NM_001024630.4:c.674G>A MANE Select	NP_001019801.3:p.Arg225Gln
NM_001278478.2:c.632G>A	NP_001265407.1:p.Arg211Gln
NM_001369405.1:c.632G>A	NP_001356334.1:p.Arg211Gln
NM_001015051.4:c.674G>A	NP_001015051.3:p.Arg225Gln