Canonical Allele Identifier: CA567156316

Gene: RUNX2

Linked Data

• dbSNP Id: rs1339998588
• gnomAD v2: 6-45515092-ATC-A
• gnomAD v3: 6-45547355-ATC-A
• gnomAD v4: 6-45547355-ATC-A
• MyVariant Identifiers: chr6:g.45515093_45515094del (hg19) ; chr6:g.45547356_45547357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547356_45547357del , CM000668.2:g.45547356_45547357del	GRCh38
NC_000006.11:g.45515093_45515094del , CM000668.1:g.45515093_45515094del	GRCh37
NC_000006.10:g.45623071_45623072del	NCBI36
NG_008020.1:g.224040_224041del
NG_008020.2:g.224040_224041del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*774_*775del	ENSP00000496517.1:n.*774_*775del
ENST00000647337.2:c.*51_*52del MANE Select	ENSP00000495497.1:n.*51_*52del
ENST00000359524.7:c.*51_*52del	ENSP00000352514.5:n.*51_*52del
ENST00000371432.7:c.*51_*52del	ENSP00000360486.4:n.*51_*52del
ENST00000371436.10:c.1551_1552del	ENSP00000360491.6:n.1551_1552del
ENST00000371438.5:c.*51_*52del	ENSP00000360493.1:n.*51_*52del
ENST00000478660.6:c.*178+33703_*178+33704del	ENSP00000460188.1:n.*178+33703_*178+33704del
ENST00000576263.5:c.1021+34949_1021+34950del	ENSP00000458178.1:n.1021+34949_1021+34950del
NM_001015051.3:c.*51_*52del	NP_001015051.3:n.*51_*52del
NM_001024630.3:c.*51_*52del	NP_001019801.3:n.*51_*52del
NM_001278478.1:c.1509_1510del	NP_001265407.1:n.1509_1510del
XM_006715232.1:c.*51_*52del	XP_006715295.1:n.*51_*52del
XM_011514960.1:c.1225+34949_1225+34950del	XP_011513262.1:n.1225+34949_1225+34950del
XM_011514961.1:c.*51_*52del	XP_011513263.1:n.*51_*52del
XM_011514962.1:c.*51_*52del	XP_011513264.1:n.*51_*52del
XM_011514963.1:c.1051+34949_1051+34950del	XP_011513265.1:n.1051+34949_1051+34950del
XM_011514964.1:c.1435+386_1435+387del	XP_011513266.1:n.1435+386_1435+387del
XM_011514966.1:c.553+34949_553+34950del	XP_011513268.1:n.553+34949_553+34950del
NM_001024630.4:c.*51_*52del MANE Select	NP_001019801.3:n.*51_*52del
NM_001278478.2:c.*51_*52del	NP_001265407.1:n.*51_*52del
NM_001369405.1:c.*51_*52del	NP_001356334.1:n.*51_*52del
NM_001015051.4:c.*51_*52del	NP_001015051.3:n.*51_*52del