Canonical Allele Identifier: CA363955914

Gene: RUNX2

Linked Data

• ClinVar Variation Id: 1185698
• ClinVar RCV Id: RCV001823783
• dbSNP Id: rs758120505
• MyVariant Identifiers: chr6:g.45480024C>T (hg19) ; chr6:g.45512287C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45512287C>T , CM000668.2:g.45512287C>T	GRCh38
NC_000006.11:g.45480024C>T , CM000668.1:g.45480024C>T	GRCh37
NC_000006.10:g.45588002C>T	NCBI36
NG_008020.1:g.188971C>T
NG_008020.2:g.188971C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.859C>T	ENSP00000496517.1:p.Gln287Ter
ENST00000647337.2:c.901C>T MANE Select	ENSP00000495497.1:p.Gln301Ter
ENST00000359524.7:c.859C>T	ENSP00000352514.5:p.Gln287Ter
ENST00000371432.7:c.901C>T	ENSP00000360486.4:p.Gln301Ter
ENST00000371436.10:c.901C>T	ENSP00000360491.6:p.Gln301Ter
ENST00000371438.5:c.901C>T	ENSP00000360493.1:p.Gln301Ter
ENST00000465038.6:c.901C>T	ENSP00000420707.2:p.Gln301Ter
ENST00000478660.6:c.685C>T	ENSP00000460188.1:p.Gln229Ter
ENST00000483377.5:c.*422C>T	ENSP00000461357.1:n.*422C>T
ENST00000576263.5:c.901C>T	ENSP00000458178.1:p.Gln301Ter
ENST00000625924.1:c.859C>T	ENSP00000485863.1:p.Gln287Ter
NM_001015051.3:c.901C>T	NP_001015051.3:p.Gln301Ter
NM_001024630.3:c.901C>T	NP_001019801.3:p.Gln301Ter
NM_001278478.1:c.859C>T	NP_001265407.1:p.Gln287Ter
XM_006715232.1:c.685C>T	XP_006715295.1:p.Gln229Ter
XM_011514960.1:c.1105C>T	XP_011513262.1:p.Gln369Ter
XM_011514961.1:c.1105C>T	XP_011513263.1:p.Gln369Ter
XM_011514962.1:c.1105C>T	XP_011513264.1:p.Gln369Ter
XM_011514963.1:c.931C>T	XP_011513265.1:p.Gln311Ter
XM_011514964.1:c.1105C>T	XP_011513266.1:p.Gln369Ter
XM_011514965.1:c.1105C>T	XP_011513267.1:p.Gln369Ter
XM_011514966.1:c.433C>T	XP_011513268.1:p.Gln145Ter
XR_926323.1:n.1699C>T
NM_001024630.4:c.901C>T MANE Select	NP_001019801.3:p.Gln301Ter
NM_001278478.2:c.859C>T	NP_001265407.1:p.Gln287Ter
NM_001369405.1:c.859C>T	NP_001356334.1:p.Gln287Ter
NM_001015051.4:c.901C>T	NP_001015051.3:p.Gln301Ter