Canonical Allele Identifier: CA363955909
Gene: RUNX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45512285A>G , CM000668.2:g.45512285A>G GRCh38
NC_000006.11:g.45480022A>G , CM000668.1:g.45480022A>G GRCh37
NC_000006.10:g.45588000A>G NCBI36
NG_008020.1:g.188969A>G
NG_008020.2:g.188969A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000646519.1:c.857A>G ENSP00000496517.1:p.Asp286Gly
ENST00000647337.2:c.899A>G MANE Select ENSP00000495497.1:p.Asp300Gly
ENST00000359524.7:c.857A>G ENSP00000352514.5:p.Asp286Gly
ENST00000371432.7:c.899A>G ENSP00000360486.4:p.Asp300Gly
ENST00000371436.10:c.899A>G ENSP00000360491.6:p.Asp300Gly
ENST00000371438.5:c.899A>G ENSP00000360493.1:p.Asp300Gly
ENST00000465038.6:c.899A>G ENSP00000420707.2:p.Asp300Gly
ENST00000478660.6:c.683A>G ENSP00000460188.1:p.Asp228Gly
ENST00000483377.5:c.*420A>G ENSP00000461357.1:n.*420A>G
ENST00000576263.5:c.899A>G ENSP00000458178.1:p.Asp300Gly
ENST00000625924.1:c.857A>G ENSP00000485863.1:p.Asp286Gly
NM_001015051.3:c.899A>G NP_001015051.3:p.Asp300Gly
NM_001024630.3:c.899A>G NP_001019801.3:p.Asp300Gly
NM_001278478.1:c.857A>G NP_001265407.1:p.Asp286Gly
XM_006715232.1:c.683A>G XP_006715295.1:p.Asp228Gly
XM_011514960.1:c.1103A>G XP_011513262.1:p.Asp368Gly
XM_011514961.1:c.1103A>G XP_011513263.1:p.Asp368Gly
XM_011514962.1:c.1103A>G XP_011513264.1:p.Asp368Gly
XM_011514963.1:c.929A>G XP_011513265.1:p.Asp310Gly
XM_011514964.1:c.1103A>G XP_011513266.1:p.Asp368Gly
XM_011514965.1:c.1103A>G XP_011513267.1:p.Asp368Gly
XM_011514966.1:c.431A>G XP_011513268.1:p.Asp144Gly
XR_926323.1:n.1697A>G
NM_001024630.4:c.899A>G MANE Select NP_001019801.3:p.Asp300Gly
NM_001278478.2:c.857A>G NP_001265407.1:p.Asp286Gly
NM_001369405.1:c.857A>G NP_001356334.1:p.Asp286Gly
NM_001015051.4:c.899A>G NP_001015051.3:p.Asp300Gly