Canonical Allele Identifier: CA363955907
Gene: RUNX2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000646519.1:c.856G>T ENSP00000496517.1:p.Asp286Tyr
ENST00000647337.2:c.898G>T MANE Select ENSP00000495497.1:p.Asp300Tyr
ENST00000359524.7:c.856G>T ENSP00000352514.5:p.Asp286Tyr
ENST00000371432.7:c.898G>T ENSP00000360486.4:p.Asp300Tyr
ENST00000371436.10:c.898G>T ENSP00000360491.6:p.Asp300Tyr
ENST00000371438.5:c.898G>T ENSP00000360493.1:p.Asp300Tyr
ENST00000465038.6:c.898G>T ENSP00000420707.2:p.Asp300Tyr
ENST00000478660.6:c.682G>T ENSP00000460188.1:p.Asp228Tyr
ENST00000483377.5:c.*419G>T ENSP00000461357.1:n.*419G>T
ENST00000576263.5:c.898G>T ENSP00000458178.1:p.Asp300Tyr
ENST00000625924.1:c.856G>T ENSP00000485863.1:p.Asp286Tyr
NM_001015051.3:c.898G>T NP_001015051.3:p.Asp300Tyr
NM_001024630.3:c.898G>T NP_001019801.3:p.Asp300Tyr
NM_001278478.1:c.856G>T NP_001265407.1:p.Asp286Tyr
XM_006715232.1:c.682G>T XP_006715295.1:p.Asp228Tyr
XM_011514960.1:c.1102G>T XP_011513262.1:p.Asp368Tyr
XM_011514961.1:c.1102G>T XP_011513263.1:p.Asp368Tyr
XM_011514962.1:c.1102G>T XP_011513264.1:p.Asp368Tyr
XM_011514963.1:c.928G>T XP_011513265.1:p.Asp310Tyr
XM_011514964.1:c.1102G>T XP_011513266.1:p.Asp368Tyr
XM_011514965.1:c.1102G>T XP_011513267.1:p.Asp368Tyr
XM_011514966.1:c.430G>T XP_011513268.1:p.Asp144Tyr
XR_926323.1:n.1696G>T
NM_001024630.4:c.898G>T MANE Select NP_001019801.3:p.Asp300Tyr
NM_001278478.2:c.856G>T NP_001265407.1:p.Asp286Tyr
NM_001369405.1:c.856G>T NP_001356334.1:p.Asp286Tyr
NM_001015051.4:c.898G>T NP_001015051.3:p.Asp300Tyr