Canonical Allele Identifier: CA1088543076

Gene: RUNX2

Linked Data

• dbSNP Id: rs1802438777
• gnomAD v3: 6-45547504-AAG-A
• gnomAD v4: 6-45547504-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547510_45547511del , CM000668.2:g.45547510_45547511del	GRCh38
NC_000006.11:g.45515247_45515248del , CM000668.1:g.45515247_45515248del	GRCh37
NC_000006.10:g.45623225_45623226del	NCBI36
NG_008020.1:g.224194_224195del
NG_008020.2:g.224194_224195del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*928_*929del	ENSP00000496517.1:n.*928_*929del
ENST00000647337.2:c.*205_*206del MANE Select	ENSP00000495497.1:n.*205_*206del
ENST00000359524.7:c.*205_*206del	ENSP00000352514.5:n.*205_*206del
ENST00000371432.7:c.*205_*206del	ENSP00000360486.4:n.*205_*206del
ENST00000371438.5:c.*205_*206del	ENSP00000360493.1:n.*205_*206del
ENST00000478660.6:c.*178+33857_*178+33858del	ENSP00000460188.1:n.*178+33857_*178+33858del
ENST00000576263.5:c.1021+35103_1021+35104del	ENSP00000458178.1:n.1021+35103_1021+35104del
NM_001015051.3:c.*205_*206del	NP_001015051.3:n.*205_*206del
NM_001024630.3:c.*205_*206del	NP_001019801.3:n.*205_*206del
NM_001278478.1:c.1663_1664del	NP_001265407.1:n.1663_1664del
XM_006715232.1:c.*205_*206del	XP_006715295.1:n.*205_*206del
XM_011514960.1:c.1225+35103_1225+35104del	XP_011513262.1:n.1225+35103_1225+35104del
XM_011514961.1:c.*205_*206del	XP_011513263.1:n.*205_*206del
XM_011514962.1:c.*205_*206del	XP_011513264.1:n.*205_*206del
XM_011514963.1:c.1051+35103_1051+35104del	XP_011513265.1:n.1051+35103_1051+35104del
XM_011514964.1:c.1435+540_1435+541del	XP_011513266.1:n.1435+540_1435+541del
XM_011514966.1:c.553+35103_553+35104del	XP_011513268.1:n.553+35103_553+35104del
NM_001024630.4:c.*205_*206del MANE Select	NP_001019801.3:n.*205_*206del
NM_001278478.2:c.*205_*206del	NP_001265407.1:n.*205_*206del
NM_001369405.1:c.*205_*206del	NP_001356334.1:n.*205_*206del
NM_001015051.4:c.*205_*206del	NP_001015051.3:n.*205_*206del