Canonical Allele Identifier: CA363955864

Gene: RUNX2

Linked Data

• COSMIC: COSM4943471 ; COSM4943472
• MyVariant Identifiers: chr6:g.45480000T>C (hg19) ; chr6:g.45512263T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45512263T>C , CM000668.2:g.45512263T>C	GRCh38
NC_000006.11:g.45480000T>C , CM000668.1:g.45480000T>C	GRCh37
NC_000006.10:g.45587978T>C	NCBI36
NG_008020.1:g.188947T>C
NG_008020.2:g.188947T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.835T>C	ENSP00000496517.1:p.Ser279Pro
ENST00000647337.2:c.877T>C MANE Select	ENSP00000495497.1:p.Ser293Pro
ENST00000359524.7:c.835T>C	ENSP00000352514.5:p.Ser279Pro
ENST00000371432.7:c.877T>C	ENSP00000360486.4:p.Ser293Pro
ENST00000371436.10:c.877T>C	ENSP00000360491.6:p.Ser293Pro
ENST00000371438.5:c.877T>C	ENSP00000360493.1:p.Ser293Pro
ENST00000465038.6:c.877T>C	ENSP00000420707.2:p.Ser293Pro
ENST00000478660.6:c.661T>C	ENSP00000460188.1:p.Ser221Pro
ENST00000483377.5:c.*398T>C	ENSP00000461357.1:n.*398T>C
ENST00000576263.5:c.877T>C	ENSP00000458178.1:p.Ser293Pro
ENST00000625924.1:c.835T>C	ENSP00000485863.1:p.Ser279Pro
NM_001015051.3:c.877T>C	NP_001015051.3:p.Ser293Pro
NM_001024630.3:c.877T>C	NP_001019801.3:p.Ser293Pro
NM_001278478.1:c.835T>C	NP_001265407.1:p.Ser279Pro
XM_006715232.1:c.661T>C	XP_006715295.1:p.Ser221Pro
XM_011514960.1:c.1081T>C	XP_011513262.1:p.Ser361Pro
XM_011514961.1:c.1081T>C	XP_011513263.1:p.Ser361Pro
XM_011514962.1:c.1081T>C	XP_011513264.1:p.Ser361Pro
XM_011514963.1:c.907T>C	XP_011513265.1:p.Ser303Pro
XM_011514964.1:c.1081T>C	XP_011513266.1:p.Ser361Pro
XM_011514965.1:c.1081T>C	XP_011513267.1:p.Ser361Pro
XM_011514966.1:c.409T>C	XP_011513268.1:p.Ser137Pro
XR_926323.1:n.1675T>C
NM_001024630.4:c.877T>C MANE Select	NP_001019801.3:p.Ser293Pro
NM_001278478.2:c.835T>C	NP_001265407.1:p.Ser279Pro
NM_001369405.1:c.835T>C	NP_001356334.1:p.Ser279Pro
NM_001015051.4:c.877T>C	NP_001015051.3:p.Ser293Pro