Canonical Allele Identifier: CA1625492545

Gene: RUNX2

Linked Data

• dbSNP Id: rs1802438368

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547493G>A , CM000668.2:g.45547493G>A	GRCh38
NC_000006.11:g.45515230G>A , CM000668.1:g.45515230G>A	GRCh37
NC_000006.10:g.45623208G>A	NCBI36
NG_008020.1:g.224177G>A
NG_008020.2:g.224177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*911G>A	ENSP00000496517.1:n.*911G>A
ENST00000647337.2:c.*188G>A MANE Select	ENSP00000495497.1:n.*188G>A
ENST00000359524.7:c.*188G>A	ENSP00000352514.5:n.*188G>A
ENST00000371432.7:c.*188G>A	ENSP00000360486.4:n.*188G>A
ENST00000371438.5:c.*188G>A	ENSP00000360493.1:n.*188G>A
ENST00000478660.6:c.*178+33840G>A	ENSP00000460188.1:n.*178+33840G>A
ENST00000576263.5:c.1021+35086G>A	ENSP00000458178.1:n.1021+35086G>A
NM_001015051.3:c.*188G>A	NP_001015051.3:n.*188G>A
NM_001024630.3:c.*188G>A	NP_001019801.3:n.*188G>A
NM_001278478.1:c.1646G>A	NP_001265407.1:n.1646G>A
XM_006715232.1:c.*188G>A	XP_006715295.1:n.*188G>A
XM_011514960.1:c.1225+35086G>A	XP_011513262.1:n.1225+35086G>A
XM_011514961.1:c.*188G>A	XP_011513263.1:n.*188G>A
XM_011514962.1:c.*188G>A	XP_011513264.1:n.*188G>A
XM_011514963.1:c.1051+35086G>A	XP_011513265.1:n.1051+35086G>A
XM_011514964.1:c.1435+523G>A	XP_011513266.1:n.1435+523G>A
XM_011514966.1:c.553+35086G>A	XP_011513268.1:n.553+35086G>A
NM_001024630.4:c.*188G>A MANE Select	NP_001019801.3:n.*188G>A
NM_001278478.2:c.*188G>A	NP_001265407.1:n.*188G>A
NM_001369405.1:c.*188G>A	NP_001356334.1:n.*188G>A
NM_001015051.4:c.*188G>A	NP_001015051.3:n.*188G>A