Canonical Allele Identifier: CA363956442

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45545276C>T , CM000668.2:g.45545276C>T	GRCh38
NC_000006.11:g.45513013C>T , CM000668.1:g.45513013C>T	GRCh37
NC_000006.10:g.45620991C>T	NCBI36
NG_008020.1:g.221960C>T
NG_008020.2:g.221960C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001024630.4:c.1081C>T MANE Select	NP_001019801.3:p.Gln361Ter
ENST00000647337.2:c.1081C>T MANE Select	ENSP00000495497.1:p.Gln361Ter
NM_001015051.3:c.1022-1551C>T	NP_001015051.3:n.1022-1551C>T
NM_001015051.4:c.1022-1551C>T	NP_001015051.3:n.1022-1551C>T
NM_001024630.3:c.1081C>T	NP_001019801.3:p.Gln361Ter
NM_001278478.1:c.980-1551C>T	NP_001265407.1:n.980-1551C>T
NM_001278478.2:c.980-1551C>T	NP_001265407.1:n.980-1551C>T
NM_001369405.1:c.1039C>T	NP_001356334.1:p.Gln347Ter
ENST00000359524.7:c.1039C>T	ENSP00000352514.5:p.Gln347Ter
ENST00000371432.7:c.1022-1551C>T	ENSP00000360486.4:n.1022-1551C>T
ENST00000371436.10:c.1022-1551C>T	ENSP00000360491.6:n.1022-1551C>T
ENST00000371438.5:c.1081C>T	ENSP00000360493.1:p.Gln361Ter
ENST00000465038.6:c.1081C>T	ENSP00000420707.2:p.Gln361Ter
ENST00000478660.6:c.*178+31623C>T	ENSP00000460188.1:n.*178+31623C>T
ENST00000483377.5:c.*602C>T	ENSP00000461357.1:n.*602C>T
ENST00000576263.5:c.1021+32869C>T	ENSP00000458178.1:n.1021+32869C>T
ENST00000625924.1:c.980-1551C>T	ENSP00000485863.1:n.980-1551C>T
ENST00000646519.1:c.*238C>T	ENSP00000496517.1:n.*238C>T
XM_006715232.1:c.865C>T	XP_006715295.1:p.Gln289Ter
XM_011514960.1:c.1225+32869C>T	XP_011513262.1:n.1225+32869C>T
XM_011514961.1:c.1285C>T	XP_011513263.1:p.Gln429Ter
XM_011514962.1:c.1226-1551C>T	XP_011513264.1:n.1226-1551C>T
XM_011514963.1:c.1051+32869C>T	XP_011513265.1:n.1051+32869C>T
XM_011514964.1:c.1285C>T	XP_011513266.1:p.Gln429Ter
XM_011514966.1:c.553+32869C>T	XP_011513268.1:n.553+32869C>T