Canonical Allele Identifier: CA138460537

Gene: RUNX2

Linked Data

• dbSNP Id: rs11498198
• MyVariant Identifiers: chr6:g.45515007G>C (hg19) ; chr6:g.45547270G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547270G>C , CM000668.2:g.45547270G>C	GRCh38
NC_000006.11:g.45515007G>C , CM000668.1:g.45515007G>C	GRCh37
NC_000006.10:g.45622985G>C	NCBI36
NG_008020.1:g.223954G>C
NG_008020.2:g.223954G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*688G>C	ENSP00000496517.1:n.*688G>C
ENST00000647337.2:c.1531G>C MANE Select	ENSP00000495497.1:p.Gly511Arg
ENST00000359524.7:c.1489G>C	ENSP00000352514.5:p.Gly497Arg
ENST00000371432.7:c.1465G>C	ENSP00000360486.4:p.Gly489Arg
ENST00000371436.10:c.1465G>C	ENSP00000360491.6:p.Gly489Arg
ENST00000371438.5:c.1531G>C	ENSP00000360493.1:p.Gly511Arg
ENST00000465038.6:c.1531G>C	ENSP00000420707.2:p.Gly511Arg
ENST00000478660.6:c.*178+33617G>C	ENSP00000460188.1:n.*178+33617G>C
ENST00000576263.5:c.1021+34863G>C	ENSP00000458178.1:n.1021+34863G>C
ENST00000625924.1:c.1423G>C	ENSP00000485863.1:p.Gly475Arg
NM_001015051.3:c.1465G>C	NP_001015051.3:p.Gly489Arg
NM_001024630.3:c.1531G>C	NP_001019801.3:p.Gly511Arg
NM_001278478.1:c.1423G>C	NP_001265407.1:p.Gly475Arg
XM_006715232.1:c.1315G>C	XP_006715295.1:p.Gly439Arg
XM_011514960.1:c.1225+34863G>C	XP_011513262.1:n.1225+34863G>C
XM_011514961.1:c.1735G>C	XP_011513263.1:p.Gly579Arg
XM_011514962.1:c.1669G>C	XP_011513264.1:p.Gly557Arg
XM_011514963.1:c.1051+34863G>C	XP_011513265.1:n.1051+34863G>C
XM_011514964.1:c.1435+300G>C	XP_011513266.1:n.1435+300G>C
XM_011514966.1:c.553+34863G>C	XP_011513268.1:n.553+34863G>C
NM_001024630.4:c.1531G>C MANE Select	NP_001019801.3:p.Gly511Arg
NM_001278478.2:c.1423G>C	NP_001265407.1:p.Gly475Arg
NM_001369405.1:c.1489G>C	NP_001356334.1:p.Gly497Arg
NM_001015051.4:c.1465G>C	NP_001015051.3:p.Gly489Arg