Canonical Allele Identifier: CA2739273062

Gene: RUNX2

Linked Data

• ClinVar Variation Id: 2820432
• ClinVar RCV Id: RCV003709179

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45422728_45422729insGCAGCAGCAGCAGCAGCAGCAGCAGCA , CM000668.2:g.45422728_45422729insGCAGCAGCAGCAGCAGCAGCAGCAGCA	GRCh38
NC_000006.11:g.45390465_45390466insGCAGCAGCAGCAGCAGCAGCAGCAGCA , CM000668.1:g.45390465_45390466insGCAGCAGCAGCAGCAGCAGCAGCAGCA	GRCh37
NC_000006.10:g.45498443_45498444insGCAGCAGCAGCAGCAGCAGCAGCAGCA	NCBI36
NG_008020.1:g.99412_99413insGCAGCAGCAGCAGCAGCAGCAGCAGCA
NG_008020.2:g.99412_99413insGCAGCAGCAGCAGCAGCAGCAGCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.152_153insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000496517.1:p.Gln51_Gln52insGlnGlnGlnGlnGlnGlnGlnGlnGln...
ENST00000647337.2:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select	ENSP00000495497.1:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln...
ENST00000359524.7:c.152_153insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000352514.5:p.Gln51_Gln52insGlnGlnGlnGlnGlnGlnGlnGlnGln...
ENST00000371432.7:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000360486.4:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln...
ENST00000371436.10:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000360491.6:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln...
ENST00000371438.5:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000360493.1:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln...
ENST00000465038.6:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000420707.2:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln...
ENST00000478660.6:c.152_153insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000460188.1:p.Gln51_Gln52insGlnGlnGlnGlnGlnGlnGlnGlnGln...
ENST00000483377.5:c.59-9135_59-9134insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000461357.1:n.59-9135_59-9134insGCAGCAGCAGCAGCAGCAGCAGC...
ENST00000576263.5:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000458178.1:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln...
ENST00000625924.1:c.152_153insGCAGCAGCAGCAGCAGCAGCAGCAGCA	ENSP00000485863.1:p.Gln51_Gln52insGlnGlnGlnGlnGlnGlnGlnGlnGln...
NM_001015051.3:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA	NP_001015051.3:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_001024630.3:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA	NP_001019801.3:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_001278478.1:c.152_153insGCAGCAGCAGCAGCAGCAGCAGCAGCA	NP_001265407.1:p.Gln51_Gln52insGlnGlnGlnGlnGlnGlnGlnGlnGln
XM_006715232.1:c.152_153insGCAGCAGCAGCAGCAGCAGCAGCAGCA	XP_006715295.1:p.Gln51_Gln52insGlnGlnGlnGlnGlnGlnGlnGlnGln
XM_011514960.1:c.398_399insGCAGCAGCAGCAGCAGCAGCAGCAGCA	XP_011513262.1:p.Gln133_Gln134insGlnGlnGlnGlnGlnGlnGlnGlnGln
XM_011514961.1:c.398_399insGCAGCAGCAGCAGCAGCAGCAGCAGCA	XP_011513263.1:p.Gln133_Gln134insGlnGlnGlnGlnGlnGlnGlnGlnGln
XM_011514962.1:c.398_399insGCAGCAGCAGCAGCAGCAGCAGCAGCA	XP_011513264.1:p.Gln133_Gln134insGlnGlnGlnGlnGlnGlnGlnGlnGln
XM_011514963.1:c.398_399insGCAGCAGCAGCAGCAGCAGCAGCAGCA	XP_011513265.1:p.Gln133_Gln134insGlnGlnGlnGlnGlnGlnGlnGlnGln
XM_011514964.1:c.398_399insGCAGCAGCAGCAGCAGCAGCAGCAGCA	XP_011513266.1:p.Gln133_Gln134insGlnGlnGlnGlnGlnGlnGlnGlnGln
XM_011514965.1:c.398_399insGCAGCAGCAGCAGCAGCAGCAGCAGCA	XP_011513267.1:p.Gln133_Gln134insGlnGlnGlnGlnGlnGlnGlnGlnGln
XM_011514967.1:c.398_399insGCAGCAGCAGCAGCAGCAGCAGCAGCA	XP_011513269.1:p.Gln133_Gln134insGlnGlnGlnGlnGlnGlnGlnGlnGln
XM_011514968.1:c.398_399insGCAGCAGCAGCAGCAGCAGCAGCAGCA	XP_011513270.1:p.Gln133_Gln134insGlnGlnGlnGlnGlnGlnGlnGlnGln
XR_926323.1:n.910_911insGCAGCAGCAGCAGCAGCAGCAGCAGCA
NM_001024630.4:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA MANE Select	NP_001019801.3:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_001278478.2:c.152_153insGCAGCAGCAGCAGCAGCAGCAGCAGCA	NP_001265407.1:p.Gln51_Gln52insGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_001369405.1:c.152_153insGCAGCAGCAGCAGCAGCAGCAGCAGCA	NP_001356334.1:p.Gln51_Gln52insGlnGlnGlnGlnGlnGlnGlnGlnGln
NM_001015051.4:c.194_195insGCAGCAGCAGCAGCAGCAGCAGCAGCA	NP_001015051.3:p.Gln65_Gln66insGlnGlnGlnGlnGlnGlnGlnGlnGln