Canonical Allele Identifier: CA2678973948

Gene: RUNX2

Linked Data

• gnomAD v4: 6-45547357-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547358_45547359del , CM000668.2:g.45547358_45547359del	GRCh38
NC_000006.11:g.45515095_45515096del , CM000668.1:g.45515095_45515096del	GRCh37
NC_000006.10:g.45623073_45623074del	NCBI36
NG_008020.1:g.224042_224043del
NG_008020.2:g.224042_224043del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*776_*777del	ENSP00000496517.1:n.*776_*777del
ENST00000647337.2:c.*53_*54del MANE Select	ENSP00000495497.1:n.*53_*54del
ENST00000359524.7:c.*53_*54del	ENSP00000352514.5:n.*53_*54del
ENST00000371432.7:c.*53_*54del	ENSP00000360486.4:n.*53_*54del
ENST00000371436.10:c.1553_1554del	ENSP00000360491.6:n.1553_1554del
ENST00000371438.5:c.*53_*54del	ENSP00000360493.1:n.*53_*54del
ENST00000478660.6:c.*178+33705_*178+33706del	ENSP00000460188.1:n.*178+33705_*178+33706del
ENST00000576263.5:c.1021+34951_1021+34952del	ENSP00000458178.1:n.1021+34951_1021+34952del
NM_001015051.3:c.*53_*54del	NP_001015051.3:n.*53_*54del
NM_001024630.3:c.*53_*54del	NP_001019801.3:n.*53_*54del
NM_001278478.1:c.1511_1512del	NP_001265407.1:n.1511_1512del
XM_006715232.1:c.*53_*54del	XP_006715295.1:n.*53_*54del
XM_011514960.1:c.1225+34951_1225+34952del	XP_011513262.1:n.1225+34951_1225+34952del
XM_011514961.1:c.*53_*54del	XP_011513263.1:n.*53_*54del
XM_011514962.1:c.*53_*54del	XP_011513264.1:n.*53_*54del
XM_011514963.1:c.1051+34951_1051+34952del	XP_011513265.1:n.1051+34951_1051+34952del
XM_011514964.1:c.1435+388_1435+389del	XP_011513266.1:n.1435+388_1435+389del
XM_011514966.1:c.553+34951_553+34952del	XP_011513268.1:n.553+34951_553+34952del
NM_001024630.4:c.*53_*54del MANE Select	NP_001019801.3:n.*53_*54del
NM_001278478.2:c.*53_*54del	NP_001265407.1:n.*53_*54del
NM_001369405.1:c.*53_*54del	NP_001356334.1:n.*53_*54del
NM_001015051.4:c.*53_*54del	NP_001015051.3:n.*53_*54del