Canonical Allele Identifier: CA363957309

Gene: RUNX2

Linked Data

• ClinVar Variation Id: 2087395
• ClinVar RCV Id: RCV003017840
• MyVariant Identifiers: chr6:g.45514954G>A (hg19) ; chr6:g.45547217G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547217G>A , CM000668.2:g.45547217G>A	GRCh38
NC_000006.11:g.45514954G>A , CM000668.1:g.45514954G>A	GRCh37
NC_000006.10:g.45622932G>A	NCBI36
NG_008020.1:g.223901G>A
NG_008020.2:g.223901G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*635G>A	ENSP00000496517.1:n.*635G>A
ENST00000647337.2:c.1478G>A MANE Select	ENSP00000495497.1:p.Gly493Asp
ENST00000359524.7:c.1436G>A	ENSP00000352514.5:p.Gly479Asp
ENST00000371432.7:c.1412G>A	ENSP00000360486.4:p.Gly471Asp
ENST00000371436.10:c.1412G>A	ENSP00000360491.6:p.Gly471Asp
ENST00000371438.5:c.1478G>A	ENSP00000360493.1:p.Gly493Asp
ENST00000465038.6:c.1478G>A	ENSP00000420707.2:p.Gly493Asp
ENST00000478660.6:c.*178+33564G>A	ENSP00000460188.1:n.*178+33564G>A
ENST00000576263.5:c.1021+34810G>A	ENSP00000458178.1:n.1021+34810G>A
ENST00000625924.1:c.1370G>A	ENSP00000485863.1:p.Gly457Asp
NM_001015051.3:c.1412G>A	NP_001015051.3:p.Gly471Asp
NM_001024630.3:c.1478G>A	NP_001019801.3:p.Gly493Asp
NM_001278478.1:c.1370G>A	NP_001265407.1:p.Gly457Asp
XM_006715232.1:c.1262G>A	XP_006715295.1:p.Gly421Asp
XM_011514960.1:c.1225+34810G>A	XP_011513262.1:n.1225+34810G>A
XM_011514961.1:c.1682G>A	XP_011513263.1:p.Gly561Asp
XM_011514962.1:c.1616G>A	XP_011513264.1:p.Gly539Asp
XM_011514963.1:c.1051+34810G>A	XP_011513265.1:n.1051+34810G>A
XM_011514964.1:c.1435+247G>A	XP_011513266.1:n.1435+247G>A
XM_011514966.1:c.553+34810G>A	XP_011513268.1:n.553+34810G>A
NM_001024630.4:c.1478G>A MANE Select	NP_001019801.3:p.Gly493Asp
NM_001278478.2:c.1370G>A	NP_001265407.1:p.Gly457Asp
NM_001369405.1:c.1436G>A	NP_001356334.1:p.Gly479Asp
NM_001015051.4:c.1412G>A	NP_001015051.3:p.Gly471Asp