Canonical Allele Identifier: CA363955902

Gene: RUNX2

Linked Data

• ClinVar Variation Id: 1312166
• ClinVar RCV Id: RCV001752819
• dbSNP Id: rs1801179599
• gnomAD v4: 6-45512282-A-G
• MyVariant Identifiers: chr6:g.45480019A>G (hg19) ; chr6:g.45512282A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45512282A>G , CM000668.2:g.45512282A>G	GRCh38
NC_000006.11:g.45480019A>G , CM000668.1:g.45480019A>G	GRCh37
NC_000006.10:g.45587997A>G	NCBI36
NG_008020.1:g.188966A>G
NG_008020.2:g.188966A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.854A>G	ENSP00000496517.1:p.Tyr285Cys
ENST00000647337.2:c.896A>G MANE Select	ENSP00000495497.1:p.Tyr299Cys
ENST00000359524.7:c.854A>G	ENSP00000352514.5:p.Tyr285Cys
ENST00000371432.7:c.896A>G	ENSP00000360486.4:p.Tyr299Cys
ENST00000371436.10:c.896A>G	ENSP00000360491.6:p.Tyr299Cys
ENST00000371438.5:c.896A>G	ENSP00000360493.1:p.Tyr299Cys
ENST00000465038.6:c.896A>G	ENSP00000420707.2:p.Tyr299Cys
ENST00000478660.6:c.680A>G	ENSP00000460188.1:p.Tyr227Cys
ENST00000483377.5:c.*417A>G	ENSP00000461357.1:n.*417A>G
ENST00000576263.5:c.896A>G	ENSP00000458178.1:p.Tyr299Cys
ENST00000625924.1:c.854A>G	ENSP00000485863.1:p.Tyr285Cys
NM_001015051.3:c.896A>G	NP_001015051.3:p.Tyr299Cys
NM_001024630.3:c.896A>G	NP_001019801.3:p.Tyr299Cys
NM_001278478.1:c.854A>G	NP_001265407.1:p.Tyr285Cys
XM_006715232.1:c.680A>G	XP_006715295.1:p.Tyr227Cys
XM_011514960.1:c.1100A>G	XP_011513262.1:p.Tyr367Cys
XM_011514961.1:c.1100A>G	XP_011513263.1:p.Tyr367Cys
XM_011514962.1:c.1100A>G	XP_011513264.1:p.Tyr367Cys
XM_011514963.1:c.926A>G	XP_011513265.1:p.Tyr309Cys
XM_011514964.1:c.1100A>G	XP_011513266.1:p.Tyr367Cys
XM_011514965.1:c.1100A>G	XP_011513267.1:p.Tyr367Cys
XM_011514966.1:c.428A>G	XP_011513268.1:p.Tyr143Cys
XR_926323.1:n.1694A>G
NM_001024630.4:c.896A>G MANE Select	NP_001019801.3:p.Tyr299Cys
NM_001278478.2:c.854A>G	NP_001265407.1:p.Tyr285Cys
NM_001369405.1:c.854A>G	NP_001356334.1:p.Tyr285Cys
NM_001015051.4:c.896A>G	NP_001015051.3:p.Tyr299Cys