Canonical Allele Identifier: CA3836519

Gene: RUNX2

Linked Data

• ClinVar Variation Id: 2413448
• ClinVar RCV Id: RCV003104244
• dbSNP Id: rs370331024
• ExAC: 6:45480021 G / C
• gnomAD v2: 6-45480021-G-C
• gnomAD v3: 6-45512284-G-C
• gnomAD v4: 6-45512284-G-C
• MyVariant Identifiers: chr6:g.45480021G>C (hg19) ; chr6:g.45512284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45512284G>C , CM000668.2:g.45512284G>C	GRCh38
NC_000006.11:g.45480021G>C , CM000668.1:g.45480021G>C	GRCh37
NC_000006.10:g.45587999G>C	NCBI36
NG_008020.1:g.188968G>C
NG_008020.2:g.188968G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.856G>C	ENSP00000496517.1:p.Asp286His
ENST00000647337.2:c.898G>C MANE Select	ENSP00000495497.1:p.Asp300His
ENST00000359524.7:c.856G>C	ENSP00000352514.5:p.Asp286His
ENST00000371432.7:c.898G>C	ENSP00000360486.4:p.Asp300His
ENST00000371436.10:c.898G>C	ENSP00000360491.6:p.Asp300His
ENST00000371438.5:c.898G>C	ENSP00000360493.1:p.Asp300His
ENST00000465038.6:c.898G>C	ENSP00000420707.2:p.Asp300His
ENST00000478660.6:c.682G>C	ENSP00000460188.1:p.Asp228His
ENST00000483377.5:c.*419G>C	ENSP00000461357.1:n.*419G>C
ENST00000576263.5:c.898G>C	ENSP00000458178.1:p.Asp300His
ENST00000625924.1:c.856G>C	ENSP00000485863.1:p.Asp286His
NM_001015051.3:c.898G>C	NP_001015051.3:p.Asp300His
NM_001024630.3:c.898G>C	NP_001019801.3:p.Asp300His
NM_001278478.1:c.856G>C	NP_001265407.1:p.Asp286His
XM_006715232.1:c.682G>C	XP_006715295.1:p.Asp228His
XM_011514960.1:c.1102G>C	XP_011513262.1:p.Asp368His
XM_011514961.1:c.1102G>C	XP_011513263.1:p.Asp368His
XM_011514962.1:c.1102G>C	XP_011513264.1:p.Asp368His
XM_011514963.1:c.928G>C	XP_011513265.1:p.Asp310His
XM_011514964.1:c.1102G>C	XP_011513266.1:p.Asp368His
XM_011514965.1:c.1102G>C	XP_011513267.1:p.Asp368His
XM_011514966.1:c.430G>C	XP_011513268.1:p.Asp144His
XR_926323.1:n.1696G>C
NM_001024630.4:c.898G>C MANE Select	NP_001019801.3:p.Asp300His
NM_001278478.2:c.856G>C	NP_001265407.1:p.Asp286His
NM_001369405.1:c.856G>C	NP_001356334.1:p.Asp286His
NM_001015051.4:c.898G>C	NP_001015051.3:p.Asp300His