Canonical Allele Identifier: CA567156317

Gene: RUNX2

Linked Data

• dbSNP Id: rs1219443340
• gnomAD v2: 6-45515094-C-CAAA
• gnomAD v3: 6-45547357-C-CAAA
• gnomAD v4: 6-45547357-C-CAAA
• MyVariant Identifiers: chr6:g.45515094_45515095insAAA (hg19) ; chr6:g.45547357_45547358insAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547359_45547360insAAA , CM000668.2:g.45547359_45547360insAAA	GRCh38
NC_000006.11:g.45515096_45515097insAAA , CM000668.1:g.45515096_45515097insAAA	GRCh37
NC_000006.10:g.45623074_45623075insAAA	NCBI36
NG_008020.1:g.224043_224044insAAA
NG_008020.2:g.224043_224044insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*777_*778insAAA	ENSP00000496517.1:n.*777_*778insAAA
ENST00000647337.2:c.*54_*55insAAA MANE Select	ENSP00000495497.1:n.*54_*55insAAA
ENST00000359524.7:c.*54_*55insAAA	ENSP00000352514.5:n.*54_*55insAAA
ENST00000371432.7:c.*54_*55insAAA	ENSP00000360486.4:n.*54_*55insAAA
ENST00000371436.10:c.1554_1555insAAA	ENSP00000360491.6:n.1554_1555insAAA
ENST00000371438.5:c.*54_*55insAAA	ENSP00000360493.1:n.*54_*55insAAA
ENST00000478660.6:c.*178+33706_*178+33707insAAA	ENSP00000460188.1:n.*178+33706_*178+33707insAAA
ENST00000576263.5:c.1021+34952_1021+34953insAAA	ENSP00000458178.1:n.1021+34952_1021+34953insAAA
NM_001015051.3:c.*54_*55insAAA	NP_001015051.3:n.*54_*55insAAA
NM_001024630.3:c.*54_*55insAAA	NP_001019801.3:n.*54_*55insAAA
NM_001278478.1:c.1512_1513insAAA	NP_001265407.1:n.1512_1513insAAA
XM_006715232.1:c.*54_*55insAAA	XP_006715295.1:n.*54_*55insAAA
XM_011514960.1:c.1225+34952_1225+34953insAAA	XP_011513262.1:n.1225+34952_1225+34953insAAA
XM_011514961.1:c.*54_*55insAAA	XP_011513263.1:n.*54_*55insAAA
XM_011514962.1:c.*54_*55insAAA	XP_011513264.1:n.*54_*55insAAA
XM_011514963.1:c.1051+34952_1051+34953insAAA	XP_011513265.1:n.1051+34952_1051+34953insAAA
XM_011514964.1:c.1435+389_1435+390insAAA	XP_011513266.1:n.1435+389_1435+390insAAA
XM_011514966.1:c.553+34952_553+34953insAAA	XP_011513268.1:n.553+34952_553+34953insAAA
NM_001024630.4:c.*54_*55insAAA MANE Select	NP_001019801.3:n.*54_*55insAAA
NM_001278478.2:c.*54_*55insAAA	NP_001265407.1:n.*54_*55insAAA
NM_001369405.1:c.*54_*55insAAA	NP_001356334.1:n.*54_*55insAAA
NM_001015051.4:c.*54_*55insAAA	NP_001015051.3:n.*54_*55insAAA