Canonical Allele Identifier: CA2678973922

Gene: RUNX2

Linked Data

• gnomAD v4: 6-45547321-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547323_45547324dup , CM000668.2:g.45547323_45547324dup	GRCh38
NC_000006.11:g.45515060_45515061dup , CM000668.1:g.45515060_45515061dup	GRCh37
NC_000006.10:g.45623038_45623039dup	NCBI36
NG_008020.1:g.224007_224008dup
NG_008020.2:g.224007_224008dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*741_*742dup	ENSP00000496517.1:n.*741_*742dup
ENST00000647337.2:c.*18_*19dup MANE Select	ENSP00000495497.1:n.*18_*19dup
ENST00000359524.7:c.*18_*19dup	ENSP00000352514.5:n.*18_*19dup
ENST00000371432.7:c.*18_*19dup	ENSP00000360486.4:n.*18_*19dup
ENST00000371436.10:c.1518_1519dup	ENSP00000360491.6:n.1518_1519dup
ENST00000371438.5:c.*18_*19dup	ENSP00000360493.1:n.*18_*19dup
ENST00000478660.6:c.*178+33670_*178+33671dup	ENSP00000460188.1:n.*178+33670_*178+33671...
ENST00000576263.5:c.1021+34916_1021+34917dup	ENSP00000458178.1:n.1021+34916_1021+34917...
NM_001015051.3:c.*18_*19dup	NP_001015051.3:n.*18_*19dup
NM_001024630.3:c.*18_*19dup	NP_001019801.3:n.*18_*19dup
NM_001278478.1:c.1476_1477dup	NP_001265407.1:n.1476_1477dup
XM_006715232.1:c.*18_*19dup	XP_006715295.1:n.*18_*19dup
XM_011514960.1:c.1225+34916_1225+34917dup	XP_011513262.1:n.1225+34916_1225+34917dup...
XM_011514961.1:c.*18_*19dup	XP_011513263.1:n.*18_*19dup
XM_011514962.1:c.*18_*19dup	XP_011513264.1:n.*18_*19dup
XM_011514963.1:c.1051+34916_1051+34917dup	XP_011513265.1:n.1051+34916_1051+34917dup...
XM_011514964.1:c.1435+353_1435+354dup	XP_011513266.1:n.1435+353_1435+354dup
XM_011514966.1:c.553+34916_553+34917dup	XP_011513268.1:n.553+34916_553+34917dup
NM_001024630.4:c.*18_*19dup MANE Select	NP_001019801.3:n.*18_*19dup
NM_001278478.2:c.*18_*19dup	NP_001265407.1:n.*18_*19dup
NM_001369405.1:c.*18_*19dup	NP_001356334.1:n.*18_*19dup
NM_001015051.4:c.*18_*19dup	NP_001015051.3:n.*18_*19dup