Canonical Allele Identifier: CA450348140

Gene: RUNX2

Linked Data

• dbSNP Id: rs1802425986
• MyVariant Identifiers: chr6:g.45514862A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547125A>C , CM000668.2:g.45547125A>C	GRCh38
NC_000006.11:g.45514862A>C , CM000668.1:g.45514862A>C	GRCh37
NC_000006.10:g.45622840A>C	NCBI36
NG_008020.1:g.223809A>C
NG_008020.2:g.223809A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*543A>C	ENSP00000496517.1:n.*543A>C
ENST00000647337.2:c.1386A>C MANE Select	ENSP00000495497.1:p.Gly462=
ENST00000359524.7:c.1344A>C	ENSP00000352514.5:p.Gly448=
ENST00000371432.7:c.1320A>C	ENSP00000360486.4:p.Gly440=
ENST00000371436.10:c.1320A>C	ENSP00000360491.6:p.Gly440=
ENST00000371438.5:c.1386A>C	ENSP00000360493.1:p.Gly462=
ENST00000465038.6:c.1386A>C	ENSP00000420707.2:p.Gly462=
ENST00000478660.6:c.*178+33472A>C	ENSP00000460188.1:n.*178+33472A>C
ENST00000483377.5:c.*907A>C	ENSP00000461357.1:n.*907A>C
ENST00000576263.5:c.1021+34718A>C	ENSP00000458178.1:n.1021+34718A>C
ENST00000625924.1:c.1278A>C	ENSP00000485863.1:p.Gly426=
NM_001015051.3:c.1320A>C	NP_001015051.3:p.Gly440=
NM_001024630.3:c.1386A>C	NP_001019801.3:p.Gly462=
NM_001278478.1:c.1278A>C	NP_001265407.1:p.Gly426=
XM_006715232.1:c.1170A>C	XP_006715295.1:p.Gly390=
XM_011514960.1:c.1225+34718A>C	XP_011513262.1:n.1225+34718A>C
XM_011514961.1:c.1590A>C	XP_011513263.1:p.Gly530=
XM_011514962.1:c.1524A>C	XP_011513264.1:p.Gly508=
XM_011514963.1:c.1051+34718A>C	XP_011513265.1:n.1051+34718A>C
XM_011514964.1:c.1435+155A>C	XP_011513266.1:n.1435+155A>C
XM_011514966.1:c.553+34718A>C	XP_011513268.1:n.553+34718A>C
NM_001024630.4:c.1386A>C MANE Select	NP_001019801.3:p.Gly462=
NM_001278478.2:c.1278A>C	NP_001265407.1:p.Gly426=
NM_001369405.1:c.1344A>C	NP_001356334.1:p.Gly448=
NM_001015051.4:c.1320A>C	NP_001015051.3:p.Gly440=