Canonical Allele Identifier: CA138460543

Gene: RUNX2

Linked Data

• dbSNP Id: rs1011992729
• MyVariant Identifiers: chr6:g.45515045T>C (hg19) ; chr6:g.45547308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547308T>C , CM000668.2:g.45547308T>C	GRCh38
NC_000006.11:g.45515045T>C , CM000668.1:g.45515045T>C	GRCh37
NC_000006.10:g.45623023T>C	NCBI36
NG_008020.1:g.223992T>C
NG_008020.2:g.223992T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*726T>C	ENSP00000496517.1:n.*726T>C
ENST00000647337.2:c.*3T>C MANE Select	ENSP00000495497.1:n.*3T>C
ENST00000359524.7:c.*3T>C	ENSP00000352514.5:n.*3T>C
ENST00000371432.7:c.*3T>C	ENSP00000360486.4:n.*3T>C
ENST00000371436.10:c.1503T>C	ENSP00000360491.6:n.1503T>C
ENST00000371438.5:c.*3T>C	ENSP00000360493.1:n.*3T>C
ENST00000478660.6:c.*178+33655T>C	ENSP00000460188.1:n.*178+33655T>C
ENST00000576263.5:c.1021+34901T>C	ENSP00000458178.1:n.1021+34901T>C
NM_001015051.3:c.*3T>C	NP_001015051.3:n.*3T>C
NM_001024630.3:c.*3T>C	NP_001019801.3:n.*3T>C
NM_001278478.1:c.1461T>C	NP_001265407.1:n.1461T>C
XM_006715232.1:c.*3T>C	XP_006715295.1:n.*3T>C
XM_011514960.1:c.1225+34901T>C	XP_011513262.1:n.1225+34901T>C
XM_011514961.1:c.*3T>C	XP_011513263.1:n.*3T>C
XM_011514962.1:c.*3T>C	XP_011513264.1:n.*3T>C
XM_011514963.1:c.1051+34901T>C	XP_011513265.1:n.1051+34901T>C
XM_011514964.1:c.1435+338T>C	XP_011513266.1:n.1435+338T>C
XM_011514966.1:c.553+34901T>C	XP_011513268.1:n.553+34901T>C
NM_001024630.4:c.*3T>C MANE Select	NP_001019801.3:n.*3T>C
NM_001278478.2:c.*3T>C	NP_001265407.1:n.*3T>C
NM_001369405.1:c.*3T>C	NP_001356334.1:n.*3T>C
NM_001015051.4:c.*3T>C	NP_001015051.3:n.*3T>C