Canonical Allele Identifier: CA3836643

Gene: RUNX2

Linked Data

• ClinVar Variation Id: 357096
• ClinVar RCV Id: RCV000335280 ; RCV000514756 ; RCV002504174
• dbSNP Id: rs11498198
• ExAC: 6:45515007 G / A
• gnomAD v2: 6-45515007-G-A
• gnomAD v3: 6-45547270-G-A
• gnomAD v4: 6-45547270-G-A
• MyVariant Identifiers: chr6:g.45515007G>A (hg19) ; chr6:g.45547270G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*688G>A	ENSP00000496517.1:n.*688G>A
ENST00000647337.2:c.1531G>A MANE Select	ENSP00000495497.1:p.Gly511Ser
ENST00000359524.7:c.1489G>A	ENSP00000352514.5:p.Gly497Ser
ENST00000371432.7:c.1465G>A	ENSP00000360486.4:p.Gly489Ser
ENST00000371436.10:c.1465G>A	ENSP00000360491.6:p.Gly489Ser
ENST00000371438.5:c.1531G>A	ENSP00000360493.1:p.Gly511Ser
ENST00000465038.6:c.1531G>A	ENSP00000420707.2:p.Gly511Ser
ENST00000478660.6:c.*178+33617G>A	ENSP00000460188.1:n.*178+33617G>A
ENST00000576263.5:c.1021+34863G>A	ENSP00000458178.1:n.1021+34863G>A
ENST00000625924.1:c.1423G>A	ENSP00000485863.1:p.Gly475Ser
NM_001015051.3:c.1465G>A	NP_001015051.3:p.Gly489Ser
NM_001024630.3:c.1531G>A	NP_001019801.3:p.Gly511Ser
NM_001278478.1:c.1423G>A	NP_001265407.1:p.Gly475Ser
XM_006715232.1:c.1315G>A	XP_006715295.1:p.Gly439Ser
XM_011514960.1:c.1225+34863G>A	XP_011513262.1:n.1225+34863G>A
XM_011514961.1:c.1735G>A	XP_011513263.1:p.Gly579Ser
XM_011514962.1:c.1669G>A	XP_011513264.1:p.Gly557Ser
XM_011514963.1:c.1051+34863G>A	XP_011513265.1:n.1051+34863G>A
XM_011514964.1:c.1435+300G>A	XP_011513266.1:n.1435+300G>A
XM_011514966.1:c.553+34863G>A	XP_011513268.1:n.553+34863G>A
NM_001024630.4:c.1531G>A MANE Select	NP_001019801.3:p.Gly511Ser
NM_001278478.2:c.1423G>A	NP_001265407.1:p.Gly475Ser
NM_001369405.1:c.1489G>A	NP_001356334.1:p.Gly497Ser
NM_001015051.4:c.1465G>A	NP_001015051.3:p.Gly489Ser