Canonical Allele Identifier: CA567156319

Gene: RUNX2

Linked Data

• dbSNP Id: rs1264590530
• gnomAD v2: 6-45515165-TAGA-T
• gnomAD v3: 6-45547428-TAGA-T
• gnomAD v4: 6-45547428-TAGA-T
• MyVariant Identifiers: chr6:g.45515166_45515168del (hg19) ; chr6:g.45547429_45547431del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547432_45547434del , CM000668.2:g.45547432_45547434del	GRCh38
NC_000006.11:g.45515169_45515171del , CM000668.1:g.45515169_45515171del	GRCh37
NC_000006.10:g.45623147_45623149del	NCBI36
NG_008020.1:g.224116_224118del
NG_008020.2:g.224116_224118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*850_*852del	ENSP00000496517.1:n.*850_*852del
ENST00000647337.2:c.*127_*129del MANE Select	ENSP00000495497.1:n.*127_*129del
ENST00000359524.7:c.*127_*129del	ENSP00000352514.5:n.*127_*129del
ENST00000371432.7:c.*127_*129del	ENSP00000360486.4:n.*127_*129del
ENST00000371438.5:c.*127_*129del	ENSP00000360493.1:n.*127_*129del
ENST00000478660.6:c.*178+33779_*178+33781del	ENSP00000460188.1:n.*178+33779_*178+33781del
ENST00000576263.5:c.1021+35025_1021+35027del	ENSP00000458178.1:n.1021+35025_1021+35027del
NM_001015051.3:c.*127_*129del	NP_001015051.3:n.*127_*129del
NM_001024630.3:c.*127_*129del	NP_001019801.3:n.*127_*129del
NM_001278478.1:c.1585_1587del	NP_001265407.1:n.1585_1587del
XM_006715232.1:c.*127_*129del	XP_006715295.1:n.*127_*129del
XM_011514960.1:c.1225+35025_1225+35027del	XP_011513262.1:n.1225+35025_1225+35027del
XM_011514961.1:c.*127_*129del	XP_011513263.1:n.*127_*129del
XM_011514962.1:c.*127_*129del	XP_011513264.1:n.*127_*129del
XM_011514963.1:c.1051+35025_1051+35027del	XP_011513265.1:n.1051+35025_1051+35027del
XM_011514964.1:c.1435+462_1435+464del	XP_011513266.1:n.1435+462_1435+464del
XM_011514966.1:c.553+35025_553+35027del	XP_011513268.1:n.553+35025_553+35027del
NM_001024630.4:c.*127_*129del MANE Select	NP_001019801.3:n.*127_*129del
NM_001278478.2:c.*127_*129del	NP_001265407.1:n.*127_*129del
NM_001369405.1:c.*127_*129del	NP_001356334.1:n.*127_*129del
NM_001015051.4:c.*127_*129del	NP_001015051.3:n.*127_*129del