Canonical Allele Identifier: CA825128066

Gene: RUNX2

Linked Data

• dbSNP Id: rs1049878401
• gnomAD v3: 6-45497968-C-G
• gnomAD v4: 6-45497968-C-G
• MyVariant Identifiers: chr6:g.45465705C>G (hg19) ; chr6:g.45497968C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45497968C>G , CM000668.2:g.45497968C>G	GRCh38
NC_000006.11:g.45465705C>G , CM000668.1:g.45465705C>G	GRCh37
NC_000006.10:g.45573683C>G	NCBI36
NG_008020.1:g.174652C>G
NG_008020.2:g.174652C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.817+5854C>G	ENSP00000496517.1:n.817+5854C>G
ENST00000647337.2:c.859+5854C>G MANE Select	ENSP00000495497.1:n.859+5854C>G
ENST00000359524.7:c.817+5854C>G	ENSP00000352514.5:n.817+5854C>G
ENST00000371432.7:c.859+5854C>G	ENSP00000360486.4:n.859+5854C>G
ENST00000371436.10:c.859+5854C>G	ENSP00000360491.6:n.859+5854C>G
ENST00000371438.5:c.859+5854C>G	ENSP00000360493.1:n.859+5854C>G
ENST00000465038.6:c.859+5854C>G	ENSP00000420707.2:n.859+5854C>G
ENST00000478660.6:c.644-14278C>G	ENSP00000460188.1:n.644-14278C>G
ENST00000483377.5:c.*380+5854C>G	ENSP00000461357.1:n.*380+5854C>G
ENST00000576263.5:c.859+5854C>G	ENSP00000458178.1:n.859+5854C>G
ENST00000625924.1:c.817+5854C>G	ENSP00000485863.1:n.817+5854C>G
NM_001015051.3:c.859+5854C>G	NP_001015051.3:n.859+5854C>G
NM_001024630.3:c.859+5854C>G	NP_001019801.3:n.859+5854C>G
NM_001278478.1:c.817+5854C>G	NP_001265407.1:n.817+5854C>G
XM_006715232.1:c.644-14278C>G	XP_006715295.1:n.644-14278C>G
XM_011514960.1:c.1063+5854C>G	XP_011513262.1:n.1063+5854C>G
XM_011514961.1:c.1063+5854C>G	XP_011513263.1:n.1063+5854C>G
XM_011514962.1:c.1063+5854C>G	XP_011513264.1:n.1063+5854C>G
XM_011514963.1:c.890-14278C>G	XP_011513265.1:n.890-14278C>G
XM_011514964.1:c.1063+5854C>G	XP_011513266.1:n.1063+5854C>G
XM_011514965.1:c.1063+5854C>G	XP_011513267.1:n.1063+5854C>G
XM_011514966.1:c.391+5854C>G	XP_011513268.1:n.391+5854C>G
XR_926323.1:n.1657+5006C>G
NM_001024630.4:c.859+5854C>G MANE Select	NP_001019801.3:n.859+5854C>G
NM_001278478.2:c.817+5854C>G	NP_001265407.1:n.817+5854C>G
NM_001369405.1:c.817+5854C>G	NP_001356334.1:n.817+5854C>G
NM_001015051.4:c.859+5854C>G	NP_001015051.3:n.859+5854C>G