Canonical Allele Identifier: CA363955842

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45512254C>T , CM000668.2:g.45512254C>T	GRCh38
NC_000006.11:g.45479991C>T , CM000668.1:g.45479991C>T	GRCh37
NC_000006.10:g.45587969C>T	NCBI36
NG_008020.1:g.188938C>T
NG_008020.2:g.188938C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001024630.4:c.868C>T MANE Select	NP_001019801.3:p.Gln290Ter
ENST00000647337.2:c.868C>T MANE Select	ENSP00000495497.1:p.Gln290Ter
NM_001015051.3:c.868C>T	NP_001015051.3:p.Gln290Ter
NM_001015051.4:c.868C>T	NP_001015051.3:p.Gln290Ter
NM_001024630.3:c.868C>T	NP_001019801.3:p.Gln290Ter
NM_001278478.1:c.826C>T	NP_001265407.1:p.Gln276Ter
NM_001278478.2:c.826C>T	NP_001265407.1:p.Gln276Ter
NM_001369405.1:c.826C>T	NP_001356334.1:p.Gln276Ter
ENST00000359524.7:c.826C>T	ENSP00000352514.5:p.Gln276Ter
ENST00000371432.7:c.868C>T	ENSP00000360486.4:p.Gln290Ter
ENST00000371436.10:c.868C>T	ENSP00000360491.6:p.Gln290Ter
ENST00000371438.5:c.868C>T	ENSP00000360493.1:p.Gln290Ter
ENST00000465038.6:c.868C>T	ENSP00000420707.2:p.Gln290Ter
ENST00000478660.6:c.652C>T	ENSP00000460188.1:p.Gln218Ter
ENST00000483377.5:c.*389C>T	ENSP00000461357.1:n.*389C>T
ENST00000576263.5:c.868C>T	ENSP00000458178.1:p.Gln290Ter
ENST00000625924.1:c.826C>T	ENSP00000485863.1:p.Gln276Ter
ENST00000646519.1:c.826C>T	ENSP00000496517.1:p.Gln276Ter
XM_006715232.1:c.652C>T	XP_006715295.1:p.Gln218Ter
XM_011514960.1:c.1072C>T	XP_011513262.1:p.Gln358Ter
XM_011514961.1:c.1072C>T	XP_011513263.1:p.Gln358Ter
XM_011514962.1:c.1072C>T	XP_011513264.1:p.Gln358Ter
XM_011514963.1:c.898C>T	XP_011513265.1:p.Gln300Ter
XM_011514964.1:c.1072C>T	XP_011513266.1:p.Gln358Ter
XM_011514965.1:c.1072C>T	XP_011513267.1:p.Gln358Ter
XM_011514966.1:c.400C>T	XP_011513268.1:p.Gln134Ter
XR_926323.1:n.1666C>T