Canonical Allele Identifier: CA3836587

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45546911G>A , CM000668.2:g.45546911G>A	GRCh38
NC_000006.11:g.45514648G>A , CM000668.1:g.45514648G>A	GRCh37
NC_000006.10:g.45622626G>A	NCBI36
NG_008020.1:g.223595G>A
NG_008020.2:g.223595G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001024630.4:c.1172G>A MANE Select	NP_001019801.3:p.Arg391Gln
ENST00000647337.2:c.1172G>A MANE Select	ENSP00000495497.1:p.Arg391Gln
NM_001015051.3:c.1106G>A	NP_001015051.3:p.Arg369Gln
NM_001015051.4:c.1106G>A	NP_001015051.3:p.Arg369Gln
NM_001024630.3:c.1172G>A	NP_001019801.3:p.Arg391Gln
NM_001278478.1:c.1064G>A	NP_001265407.1:p.Arg355Gln
NM_001278478.2:c.1064G>A	NP_001265407.1:p.Arg355Gln
NM_001369405.1:c.1130G>A	NP_001356334.1:p.Arg377Gln
ENST00000359524.7:c.1130G>A	ENSP00000352514.5:p.Arg377Gln
ENST00000371432.7:c.1106G>A	ENSP00000360486.4:p.Arg369Gln
ENST00000371436.10:c.1106G>A	ENSP00000360491.6:p.Arg369Gln
ENST00000371438.5:c.1172G>A	ENSP00000360493.1:p.Arg391Gln
ENST00000465038.6:c.1172G>A	ENSP00000420707.2:p.Arg391Gln
ENST00000478660.6:c.*178+33258G>A	ENSP00000460188.1:n.*178+33258G>A
ENST00000483377.5:c.*693G>A	ENSP00000461357.1:n.*693G>A
ENST00000576263.5:c.1021+34504G>A	ENSP00000458178.1:n.1021+34504G>A
ENST00000625924.1:c.1064G>A	ENSP00000485863.1:p.Arg355Gln
ENST00000646519.1:c.*329G>A	ENSP00000496517.1:n.*329G>A
XM_006715232.1:c.956G>A	XP_006715295.1:p.Arg319Gln
XM_011514960.1:c.1225+34504G>A	XP_011513262.1:n.1225+34504G>A
XM_011514961.1:c.1376G>A	XP_011513263.1:p.Arg459Gln
XM_011514962.1:c.1310G>A	XP_011513264.1:p.Arg437Gln
XM_011514963.1:c.1051+34504G>A	XP_011513265.1:n.1051+34504G>A
XM_011514964.1:c.1376G>A	XP_011513266.1:p.Arg459Gln
XM_011514966.1:c.553+34504G>A	XP_011513268.1:n.553+34504G>A