Canonical Allele Identifier: CA3836649

Gene: RUNX2

Linked Data

• dbSNP Id: rs750479505
• ExAC: 6:45515082 TC / T
• gnomAD v2: 6-45515082-TC-T
• gnomAD v3: 6-45547345-TC-T
• gnomAD v4: 6-45547345-TC-T
• MyVariant Identifiers: chr6:g.45515083del (hg19) ; chr6:g.45547346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547348del , CM000668.2:g.45547348del	GRCh38
NC_000006.11:g.45515085del , CM000668.1:g.45515085del	GRCh37
NC_000006.10:g.45623063del	NCBI36
NG_008020.1:g.224032del
NG_008020.2:g.224032del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*766del	ENSP00000496517.1:n.*766del
ENST00000647337.2:c.*43del MANE Select	ENSP00000495497.1:n.*43del
ENST00000359524.7:c.*43del	ENSP00000352514.5:n.*43del
ENST00000371432.7:c.*43del	ENSP00000360486.4:n.*43del
ENST00000371436.10:c.1543del	ENSP00000360491.6:n.1543del
ENST00000371438.5:c.*43del	ENSP00000360493.1:n.*43del
ENST00000478660.6:c.*178+33695del	ENSP00000460188.1:n.*178+33695del
ENST00000576263.5:c.1021+34941del	ENSP00000458178.1:n.1021+34941del
NM_001015051.3:c.*43del	NP_001015051.3:n.*43del
NM_001024630.3:c.*43del	NP_001019801.3:n.*43del
NM_001278478.1:c.1501del	NP_001265407.1:n.1501del
XM_006715232.1:c.*43del	XP_006715295.1:n.*43del
XM_011514960.1:c.1225+34941del	XP_011513262.1:n.1225+34941del
XM_011514961.1:c.*43del	XP_011513263.1:n.*43del
XM_011514962.1:c.*43del	XP_011513264.1:n.*43del
XM_011514963.1:c.1051+34941del	XP_011513265.1:n.1051+34941del
XM_011514964.1:c.1435+378del	XP_011513266.1:n.1435+378del
XM_011514966.1:c.553+34941del	XP_011513268.1:n.553+34941del
NM_001024630.4:c.*43del MANE Select	NP_001019801.3:n.*43del
NM_001278478.2:c.*43del	NP_001265407.1:n.*43del
NM_001369405.1:c.*43del	NP_001356334.1:n.*43del
NM_001015051.4:c.*43del	NP_001015051.3:n.*43del