Canonical Allele Identifier: CA120288
Gene: RUNX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 9304
ClinVar RCV Id: RCV002293413
dbSNP Id: rs104893993

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45437964A>G , CM000668.2:g.45437964A>G GRCh38
NC_000006.11:g.45405701A>G , CM000668.1:g.45405701A>G GRCh37
NC_000006.10:g.45513679A>G NCBI36
NG_008020.1:g.114648A>G
NG_008020.2:g.114648A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000646519.1:c.556A>G ENSP00000496517.1:p.Thr186Ala
ENST00000647337.2:c.598A>G MANE Select ENSP00000495497.1:p.Thr200Ala
ENST00000359524.7:c.556A>G ENSP00000352514.5:p.Thr186Ala
ENST00000371432.7:c.598A>G ENSP00000360486.4:p.Thr200Ala
ENST00000371436.10:c.598A>G ENSP00000360491.6:p.Thr200Ala
ENST00000371438.5:c.598A>G ENSP00000360493.1:p.Thr200Ala
ENST00000465038.6:c.598A>G ENSP00000420707.2:p.Thr200Ala
ENST00000478660.6:c.556A>G ENSP00000460188.1:p.Thr186Ala
ENST00000483377.5:c.*119A>G ENSP00000461357.1:n.*119A>G
ENST00000576263.5:c.598A>G ENSP00000458178.1:p.Thr200Ala
ENST00000625924.1:c.556A>G ENSP00000485863.1:p.Thr186Ala
NM_001015051.3:c.598A>G NP_001015051.3:p.Thr200Ala
NM_001024630.3:c.598A>G NP_001019801.3:p.Thr200Ala
NM_001278478.1:c.556A>G NP_001265407.1:p.Thr186Ala
XM_006715232.1:c.556A>G XP_006715295.1:p.Thr186Ala
XM_011514960.1:c.802A>G XP_011513262.1:p.Thr268Ala
XM_011514961.1:c.802A>G XP_011513263.1:p.Thr268Ala
XM_011514962.1:c.802A>G XP_011513264.1:p.Thr268Ala
XM_011514963.1:c.802A>G XP_011513265.1:p.Thr268Ala
XM_011514964.1:c.802A>G XP_011513266.1:p.Thr268Ala
XM_011514965.1:c.802A>G XP_011513267.1:p.Thr268Ala
XM_011514966.1:c.130A>G XP_011513268.1:p.Thr44Ala
XM_011514967.1:c.802A>G XP_011513269.1:p.Thr268Ala
XM_011514968.1:c.802A>G XP_011513270.1:p.Thr268Ala
XR_926323.1:n.1314A>G
NM_001024630.4:c.598A>G MANE Select NP_001019801.3:p.Thr200Ala
NM_001278478.2:c.556A>G NP_001265407.1:p.Thr186Ala
NM_001369405.1:c.556A>G NP_001356334.1:p.Thr186Ala
NM_001015051.4:c.598A>G NP_001015051.3:p.Thr200Ala