Canonical Allele Identifier: CA450348195

Gene: RUNX2

Linked Data

• dbSNP Id: rs1320487393
• gnomAD v3: 6-45547236-C-T
• gnomAD v4: 6-45547236-C-T
• MyVariant Identifiers: chr6:g.45514973C>T (hg19) ; chr6:g.45547236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547236C>T , CM000668.2:g.45547236C>T	GRCh38
NC_000006.11:g.45514973C>T , CM000668.1:g.45514973C>T	GRCh37
NC_000006.10:g.45622951C>T	NCBI36
NG_008020.1:g.223920C>T
NG_008020.2:g.223920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*654C>T	ENSP00000496517.1:n.*654C>T
ENST00000647337.2:c.1497C>T MANE Select	ENSP00000495497.1:p.Ser499=
ENST00000359524.7:c.1455C>T	ENSP00000352514.5:p.Ser485=
ENST00000371432.7:c.1431C>T	ENSP00000360486.4:p.Ser477=
ENST00000371436.10:c.1431C>T	ENSP00000360491.6:p.Ser477=
ENST00000371438.5:c.1497C>T	ENSP00000360493.1:p.Ser499=
ENST00000465038.6:c.1497C>T	ENSP00000420707.2:p.Ser499=
ENST00000478660.6:c.*178+33583C>T	ENSP00000460188.1:n.*178+33583C>T
ENST00000576263.5:c.1021+34829C>T	ENSP00000458178.1:n.1021+34829C>T
ENST00000625924.1:c.1389C>T	ENSP00000485863.1:p.Ser463=
NM_001015051.3:c.1431C>T	NP_001015051.3:p.Ser477=
NM_001024630.3:c.1497C>T	NP_001019801.3:p.Ser499=
NM_001278478.1:c.1389C>T	NP_001265407.1:p.Ser463=
XM_006715232.1:c.1281C>T	XP_006715295.1:p.Ser427=
XM_011514960.1:c.1225+34829C>T	XP_011513262.1:n.1225+34829C>T
XM_011514961.1:c.1701C>T	XP_011513263.1:p.Ser567=
XM_011514962.1:c.1635C>T	XP_011513264.1:p.Ser545=
XM_011514963.1:c.1051+34829C>T	XP_011513265.1:n.1051+34829C>T
XM_011514964.1:c.1435+266C>T	XP_011513266.1:n.1435+266C>T
XM_011514966.1:c.553+34829C>T	XP_011513268.1:n.553+34829C>T
NM_001024630.4:c.1497C>T MANE Select	NP_001019801.3:p.Ser499=
NM_001278478.2:c.1389C>T	NP_001265407.1:p.Ser463=
NM_001369405.1:c.1455C>T	NP_001356334.1:p.Ser485=
NM_001015051.4:c.1431C>T	NP_001015051.3:p.Ser477=