Canonical Allele Identifier: CA567156318

Gene: RUNX2

Linked Data

• dbSNP Id: rs1223805989
• gnomAD v2: 6-45515159-A-AT
• gnomAD v3: 6-45547422-A-AT
• gnomAD v4: 6-45547422-A-AT
• MyVariant Identifiers: chr6:g.45515159_45515160insT (hg19) ; chr6:g.45547422_45547423insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547428dup , CM000668.2:g.45547428dup	GRCh38
NC_000006.11:g.45515165dup , CM000668.1:g.45515165dup	GRCh37
NC_000006.10:g.45623143dup	NCBI36
NG_008020.1:g.224112dup
NG_008020.2:g.224112dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*846dup	ENSP00000496517.1:n.*846dup
ENST00000647337.2:c.*123dup MANE Select	ENSP00000495497.1:n.*123dup
ENST00000359524.7:c.*123dup	ENSP00000352514.5:n.*123dup
ENST00000371432.7:c.*123dup	ENSP00000360486.4:n.*123dup
ENST00000371438.5:c.*123dup	ENSP00000360493.1:n.*123dup
ENST00000478660.6:c.*178+33775dup	ENSP00000460188.1:n.*178+33775dup
ENST00000576263.5:c.1021+35021dup	ENSP00000458178.1:n.1021+35021dup
NM_001015051.3:c.*123dup	NP_001015051.3:n.*123dup
NM_001024630.3:c.*123dup	NP_001019801.3:n.*123dup
NM_001278478.1:c.1581dup	NP_001265407.1:n.1581dup
XM_006715232.1:c.*123dup	XP_006715295.1:n.*123dup
XM_011514960.1:c.1225+35021dup	XP_011513262.1:n.1225+35021dup
XM_011514961.1:c.*123dup	XP_011513263.1:n.*123dup
XM_011514962.1:c.*123dup	XP_011513264.1:n.*123dup
XM_011514963.1:c.1051+35021dup	XP_011513265.1:n.1051+35021dup
XM_011514964.1:c.1435+458dup	XP_011513266.1:n.1435+458dup
XM_011514966.1:c.553+35021dup	XP_011513268.1:n.553+35021dup
NM_001024630.4:c.*123dup MANE Select	NP_001019801.3:n.*123dup
NM_001278478.2:c.*123dup	NP_001265407.1:n.*123dup
NM_001369405.1:c.*123dup	NP_001356334.1:n.*123dup
NM_001015051.4:c.*123dup	NP_001015051.3:n.*123dup