Canonical Allele Identifier: CA913184995

Gene: RUNX2

Linked Data

• ClinVar Variation Id: 9300
• ClinVar RCV Id: RCV001851777 ; RCV002293412 ; RCV002512952
• dbSNP Id: rs1582232661

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547118dup , CM000668.2:g.45547118dup	GRCh38
NC_000006.11:g.45514855dup , CM000668.1:g.45514855dup	GRCh37
NC_000006.10:g.45622833dup	NCBI36
NG_008020.1:g.223802dup
NG_008020.2:g.223802dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*536dup	ENSP00000496517.1:n.*536dup
ENST00000647337.2:c.1379dup MANE Select	ENSP00000495497.1:p.Asp463ArgfsTer27
ENST00000359524.7:c.1337dup	ENSP00000352514.5:p.Asp449ArgfsTer27
ENST00000371432.7:c.1313dup	ENSP00000360486.4:p.Asp441ArgfsTer27
ENST00000371436.10:c.1313dup	ENSP00000360491.6:p.Asp441ArgfsTer27
ENST00000371438.5:c.1379dup	ENSP00000360493.1:p.Asp463ArgfsTer27
ENST00000465038.6:c.1379dup	ENSP00000420707.2:p.Asp463ArgfsTer27
ENST00000478660.6:c.*178+33465dup	ENSP00000460188.1:n.*178+33465dup
ENST00000483377.5:c.*900dup	ENSP00000461357.1:n.*900dup
ENST00000576263.5:c.1021+34711dup	ENSP00000458178.1:n.1021+34711dup
ENST00000625924.1:c.1271dup	ENSP00000485863.1:p.Asp427ArgfsTer27
NM_001015051.3:c.1313dup	NP_001015051.3:p.Asp441ArgfsTer27
NM_001024630.3:c.1379dup	NP_001019801.3:p.Asp463ArgfsTer27
NM_001278478.1:c.1271dup	NP_001265407.1:p.Asp427ArgfsTer27
XM_006715232.1:c.1163dup	XP_006715295.1:p.Asp391ArgfsTer27
XM_011514960.1:c.1225+34711dup	XP_011513262.1:n.1225+34711dup
XM_011514961.1:c.1583dup	XP_011513263.1:p.Asp531ArgfsTer27
XM_011514962.1:c.1517dup	XP_011513264.1:p.Asp509ArgfsTer27
XM_011514963.1:c.1051+34711dup	XP_011513265.1:n.1051+34711dup
XM_011514964.1:c.1435+148dup	XP_011513266.1:n.1435+148dup
XM_011514966.1:c.553+34711dup	XP_011513268.1:n.553+34711dup
NM_001024630.4:c.1379dup MANE Select	NP_001019801.3:p.Asp463ArgfsTer27
NM_001278478.2:c.1271dup	NP_001265407.1:p.Asp427ArgfsTer27
NM_001369405.1:c.1337dup	NP_001356334.1:p.Asp449ArgfsTer27
NM_001015051.4:c.1313dup	NP_001015051.3:p.Asp441ArgfsTer27