Canonical Allele Identifier: CA2695206401

Gene: RUNX2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45512273del , CM000668.2:g.45512273del	GRCh38
NC_000006.11:g.45480010del , CM000668.1:g.45480010del	GRCh37
NC_000006.10:g.45587988del	NCBI36
NG_008020.1:g.188957del
NG_008020.2:g.188957del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.845del	ENSP00000496517.1:p.Pro282ArgfsTer12
ENST00000647337.2:c.887del MANE Select	ENSP00000495497.1:p.Pro296ArgfsTer12
ENST00000359524.7:c.845del	ENSP00000352514.5:p.Pro282ArgfsTer12
ENST00000371432.7:c.887del	ENSP00000360486.4:p.Pro296ArgfsTer12
ENST00000371436.10:c.887del	ENSP00000360491.6:p.Pro296ArgfsTer12
ENST00000371438.5:c.887del	ENSP00000360493.1:p.Pro296ArgfsTer12
ENST00000465038.6:c.887del	ENSP00000420707.2:p.Pro296ArgfsTer12
ENST00000478660.6:c.671del	ENSP00000460188.1:p.Pro224ArgfsTer12
ENST00000483377.5:c.*408del	ENSP00000461357.1:n.*408del
ENST00000576263.5:c.887del	ENSP00000458178.1:p.Pro296ArgfsTer12
ENST00000625924.1:c.845del	ENSP00000485863.1:p.Pro282ArgfsTer12
NM_001015051.3:c.887del	NP_001015051.3:p.Pro296ArgfsTer12
NM_001024630.3:c.887del	NP_001019801.3:p.Pro296ArgfsTer12
NM_001278478.1:c.845del	NP_001265407.1:p.Pro282ArgfsTer12
XM_006715232.1:c.671del	XP_006715295.1:p.Pro224ArgfsTer12
XM_011514960.1:c.1091del	XP_011513262.1:p.Pro364ArgfsTer12
XM_011514961.1:c.1091del	XP_011513263.1:p.Pro364ArgfsTer12
XM_011514962.1:c.1091del	XP_011513264.1:p.Pro364ArgfsTer12
XM_011514963.1:c.917del	XP_011513265.1:p.Pro306ArgfsTer12
XM_011514964.1:c.1091del	XP_011513266.1:p.Pro364ArgfsTer12
XM_011514965.1:c.1091del	XP_011513267.1:p.Pro364ArgfsTer12
XM_011514966.1:c.419del	XP_011513268.1:p.Pro140ArgfsTer12
XR_926323.1:n.1685del
NM_001024630.4:c.887del MANE Select	NP_001019801.3:p.Pro296ArgfsTer12
NM_001278478.2:c.845del	NP_001265407.1:p.Pro282ArgfsTer12
NM_001369405.1:c.845del	NP_001356334.1:p.Pro282ArgfsTer12
NM_001015051.4:c.887del	NP_001015051.3:p.Pro296ArgfsTer12