Canonical Allele Identifier: CA3836354
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45422788C>T , CM000668.2:g.45422788C>T GRCh38
NC_000006.11:g.45390525C>T , CM000668.1:g.45390525C>T GRCh37
NC_000006.10:g.45498503C>T NCBI36
NG_008020.1:g.99472C>T
NG_008020.2:g.99472C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646519.1:c.212C>T ENSP00000496517.1:p.Ala71Val
ENST00000647337.2:c.254C>T MANE Select ENSP00000495497.1:p.Ala85Val
ENST00000359524.7:c.212C>T ENSP00000352514.5:p.Ala71Val
ENST00000371432.7:c.254C>T ENSP00000360486.4:p.Ala85Val
ENST00000371436.10:c.254C>T ENSP00000360491.6:p.Ala85Val
ENST00000371438.5:c.254C>T ENSP00000360493.1:p.Ala85Val
ENST00000465038.6:c.254C>T ENSP00000420707.2:p.Ala85Val
ENST00000478660.6:c.212C>T ENSP00000460188.1:p.Ala71Val
ENST00000483377.5:c.59-9075C>T ENSP00000461357.1:n.59-9075C>T
ENST00000576263.5:c.254C>T ENSP00000458178.1:p.Ala85Val
ENST00000625924.1:c.212C>T ENSP00000485863.1:p.Ala71Val
NM_001015051.3:c.254C>T NP_001015051.3:p.Ala85Val
NM_001024630.3:c.254C>T NP_001019801.3:p.Ala85Val
NM_001278478.1:c.212C>T NP_001265407.1:p.Ala71Val
XM_006715232.1:c.212C>T XP_006715295.1:p.Ala71Val
XM_011514960.1:c.458C>T XP_011513262.1:p.Ala153Val
XM_011514961.1:c.458C>T XP_011513263.1:p.Ala153Val
XM_011514962.1:c.458C>T XP_011513264.1:p.Ala153Val
XM_011514963.1:c.458C>T XP_011513265.1:p.Ala153Val
XM_011514964.1:c.458C>T XP_011513266.1:p.Ala153Val
XM_011514965.1:c.458C>T XP_011513267.1:p.Ala153Val
XM_011514967.1:c.458C>T XP_011513269.1:p.Ala153Val
XM_011514968.1:c.458C>T XP_011513270.1:p.Ala153Val
XR_926323.1:n.970C>T
NM_001024630.4:c.254C>T MANE Select NP_001019801.3:p.Ala85Val
NM_001278478.2:c.212C>T NP_001265407.1:p.Ala71Val
NM_001369405.1:c.212C>T NP_001356334.1:p.Ala71Val
NM_001015051.4:c.254C>T NP_001015051.3:p.Ala85Val