Canonical Allele Identifier: CA3836255
Community Standard Title: NM_001024630.4(RUNX2):c.85C>A (p.Pro29Thr)
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45422619C>A , CM000668.2:g.45422619C>A GRCh38
NC_000006.11:g.45390356C>A , CM000668.1:g.45390356C>A GRCh37
NC_000006.10:g.45498334C>A NCBI36
NG_008020.1:g.99303C>A
NG_008020.2:g.99303C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001024630.4:c.85C>A MANE Select NP_001019801.3:p.Pro29Thr
ENST00000647337.2:c.85C>A MANE Select ENSP00000495497.1:p.Pro29Thr
NM_001015051.3:c.85C>A NP_001015051.3:p.Pro29Thr
NM_001015051.4:c.85C>A NP_001015051.3:p.Pro29Thr
NM_001024630.3:c.85C>A NP_001019801.3:p.Pro29Thr
NM_001278478.1:c.43C>A NP_001265407.1:p.Pro15Thr
NM_001278478.2:c.43C>A NP_001265407.1:p.Pro15Thr
NM_001369405.1:c.43C>A NP_001356334.1:p.Pro15Thr
ENST00000359524.7:c.43C>A ENSP00000352514.5:p.Pro15Thr
ENST00000371432.7:c.85C>A ENSP00000360486.4:p.Pro29Thr
ENST00000371436.10:c.85C>A ENSP00000360491.6:p.Pro29Thr
ENST00000371438.5:c.85C>A ENSP00000360493.1:p.Pro29Thr
ENST00000465038.6:c.85C>A ENSP00000420707.2:p.Pro29Thr
ENST00000478660.6:c.43C>A ENSP00000460188.1:p.Pro15Thr
ENST00000483377.5:c.59-9244C>A ENSP00000461357.1:n.59-9244C>A
ENST00000576263.5:c.85C>A ENSP00000458178.1:p.Pro29Thr
ENST00000625924.1:c.43C>A ENSP00000485863.1:p.Pro15Thr
ENST00000646519.1:c.43C>A ENSP00000496517.1:p.Pro15Thr
XM_006715232.1:c.43C>A XP_006715295.1:p.Pro15Thr
XM_011514960.1:c.289C>A XP_011513262.1:p.Pro97Thr
XM_011514961.1:c.289C>A XP_011513263.1:p.Pro97Thr
XM_011514962.1:c.289C>A XP_011513264.1:p.Pro97Thr
XM_011514963.1:c.289C>A XP_011513265.1:p.Pro97Thr
XM_011514964.1:c.289C>A XP_011513266.1:p.Pro97Thr
XM_011514965.1:c.289C>A XP_011513267.1:p.Pro97Thr
XM_011514967.1:c.289C>A XP_011513269.1:p.Pro97Thr
XM_011514968.1:c.289C>A XP_011513270.1:p.Pro97Thr
XR_926323.1:n.801C>A