Canonical Allele Identifier: CA3836621

Gene: RUNX2

Linked Data

• dbSNP Id: rs148639759
• ExAC: 6:45514867 G / A
• gnomAD v2: 6-45514867-G-A
• gnomAD v3: 6-45547130-G-A
• gnomAD v4: 6-45547130-G-A
• MyVariant Identifiers: chr6:g.45514867G>A (hg19) ; chr6:g.45547130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547130G>A , CM000668.2:g.45547130G>A	GRCh38
NC_000006.11:g.45514867G>A , CM000668.1:g.45514867G>A	GRCh37
NC_000006.10:g.45622845G>A	NCBI36
NG_008020.1:g.223814G>A
NG_008020.2:g.223814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*548G>A	ENSP00000496517.1:n.*548G>A
ENST00000647337.2:c.1391G>A MANE Select	ENSP00000495497.1:p.Arg464Gln
ENST00000359524.7:c.1349G>A	ENSP00000352514.5:p.Arg450Gln
ENST00000371432.7:c.1325G>A	ENSP00000360486.4:p.Arg442Gln
ENST00000371436.10:c.1325G>A	ENSP00000360491.6:p.Arg442Gln
ENST00000371438.5:c.1391G>A	ENSP00000360493.1:p.Arg464Gln
ENST00000465038.6:c.1391G>A	ENSP00000420707.2:p.Arg464Gln
ENST00000478660.6:c.*178+33477G>A	ENSP00000460188.1:n.*178+33477G>A
ENST00000483377.5:c.*912G>A	ENSP00000461357.1:n.*912G>A
ENST00000576263.5:c.1021+34723G>A	ENSP00000458178.1:n.1021+34723G>A
ENST00000625924.1:c.1283G>A	ENSP00000485863.1:p.Arg428Gln
NM_001015051.3:c.1325G>A	NP_001015051.3:p.Arg442Gln
NM_001024630.3:c.1391G>A	NP_001019801.3:p.Arg464Gln
NM_001278478.1:c.1283G>A	NP_001265407.1:p.Arg428Gln
XM_006715232.1:c.1175G>A	XP_006715295.1:p.Arg392Gln
XM_011514960.1:c.1225+34723G>A	XP_011513262.1:n.1225+34723G>A
XM_011514961.1:c.1595G>A	XP_011513263.1:p.Arg532Gln
XM_011514962.1:c.1529G>A	XP_011513264.1:p.Arg510Gln
XM_011514963.1:c.1051+34723G>A	XP_011513265.1:n.1051+34723G>A
XM_011514964.1:c.1435+160G>A	XP_011513266.1:n.1435+160G>A
XM_011514966.1:c.553+34723G>A	XP_011513268.1:n.553+34723G>A
NM_001024630.4:c.1391G>A MANE Select	NP_001019801.3:p.Arg464Gln
NM_001278478.2:c.1283G>A	NP_001265407.1:p.Arg428Gln
NM_001369405.1:c.1349G>A	NP_001356334.1:p.Arg450Gln
NM_001015051.4:c.1325G>A	NP_001015051.3:p.Arg442Gln