Canonical Allele Identifier: CA138434070

Gene: RUNX2

Linked Data

• dbSNP Id: rs879055045
• gnomAD v3: 6-45422783-T-TGCG
• gnomAD v4: 6-45422783-T-TGCG
• MyVariant Identifiers: chr6:g.45390520_45390521insGCG (hg19) ; chr6:g.45422783_45422784insGCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45422792_45422794dup , CM000668.2:g.45422792_45422794dup	GRCh38
NC_000006.11:g.45390529_45390531dup , CM000668.1:g.45390529_45390531dup	GRCh37
NC_000006.10:g.45498507_45498509dup	NCBI36
NG_008020.1:g.99476_99478dup
NG_008020.2:g.99476_99478dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.216_218dup	ENSP00000496517.1:p.Ala73_Ala74insAla
ENST00000647337.2:c.258_260dup MANE Select	ENSP00000495497.1:p.Ala87_Ala88insAla
ENST00000359524.7:c.216_218dup	ENSP00000352514.5:p.Ala73_Ala74insAla
ENST00000371432.7:c.258_260dup	ENSP00000360486.4:p.Ala87_Ala88insAla
ENST00000371436.10:c.258_260dup	ENSP00000360491.6:p.Ala87_Ala88insAla
ENST00000371438.5:c.258_260dup	ENSP00000360493.1:p.Ala87_Ala88insAla
ENST00000465038.6:c.258_260dup	ENSP00000420707.2:p.Ala87_Ala88insAla
ENST00000478660.6:c.216_218dup	ENSP00000460188.1:p.Ala73_Ala74insAla
ENST00000483377.5:c.59-9071_59-9069dup	ENSP00000461357.1:n.59-9071_59-9069dup
ENST00000576263.5:c.258_260dup	ENSP00000458178.1:p.Ala87_Ala88insAla
ENST00000625924.1:c.216_218dup	ENSP00000485863.1:p.Ala73_Ala74insAla
NM_001015051.3:c.258_260dup	NP_001015051.3:p.Ala87_Ala88insAla
NM_001024630.3:c.258_260dup	NP_001019801.3:p.Ala87_Ala88insAla
NM_001278478.1:c.216_218dup	NP_001265407.1:p.Ala73_Ala74insAla
XM_006715232.1:c.216_218dup	XP_006715295.1:p.Ala73_Ala74insAla
XM_011514960.1:c.462_464dup	XP_011513262.1:p.Ala155_Ala156insAla
XM_011514961.1:c.462_464dup	XP_011513263.1:p.Ala155_Ala156insAla
XM_011514962.1:c.462_464dup	XP_011513264.1:p.Ala155_Ala156insAla
XM_011514963.1:c.462_464dup	XP_011513265.1:p.Ala155_Ala156insAla
XM_011514964.1:c.462_464dup	XP_011513266.1:p.Ala155_Ala156insAla
XM_011514965.1:c.462_464dup	XP_011513267.1:p.Ala155_Ala156insAla
XM_011514967.1:c.462_464dup	XP_011513269.1:p.Ala155_Ala156insAla
XM_011514968.1:c.462_464dup	XP_011513270.1:p.Ala155_Ala156insAla
XR_926323.1:n.974_976dup
NM_001024630.4:c.258_260dup MANE Select	NP_001019801.3:p.Ala87_Ala88insAla
NM_001278478.2:c.216_218dup	NP_001265407.1:p.Ala73_Ala74insAla
NM_001369405.1:c.216_218dup	NP_001356334.1:p.Ala73_Ala74insAla
NM_001015051.4:c.258_260dup	NP_001015051.3:p.Ala87_Ala88insAla