Canonical Allele Identifier: CA450153006
Gene: RUNX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.45480008G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45512271G>T , CM000668.2:g.45512271G>T GRCh38
NC_000006.11:g.45480008G>T , CM000668.1:g.45480008G>T GRCh37
NC_000006.10:g.45587986G>T NCBI36
NG_008020.1:g.188955G>T
NG_008020.2:g.188955G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646519.1:c.843G>T ENSP00000496517.1:p.Pro281=
ENST00000647337.2:c.885G>T MANE Select ENSP00000495497.1:p.Pro295=
ENST00000359524.7:c.843G>T ENSP00000352514.5:p.Pro281=
ENST00000371432.7:c.885G>T ENSP00000360486.4:p.Pro295=
ENST00000371436.10:c.885G>T ENSP00000360491.6:p.Pro295=
ENST00000371438.5:c.885G>T ENSP00000360493.1:p.Pro295=
ENST00000465038.6:c.885G>T ENSP00000420707.2:p.Pro295=
ENST00000478660.6:c.669G>T ENSP00000460188.1:p.Pro223=
ENST00000483377.5:c.*406G>T ENSP00000461357.1:n.*406G>T
ENST00000576263.5:c.885G>T ENSP00000458178.1:p.Pro295=
ENST00000625924.1:c.843G>T ENSP00000485863.1:p.Pro281=
NM_001015051.3:c.885G>T NP_001015051.3:p.Pro295=
NM_001024630.3:c.885G>T NP_001019801.3:p.Pro295=
NM_001278478.1:c.843G>T NP_001265407.1:p.Pro281=
XM_006715232.1:c.669G>T XP_006715295.1:p.Pro223=
XM_011514960.1:c.1089G>T XP_011513262.1:p.Pro363=
XM_011514961.1:c.1089G>T XP_011513263.1:p.Pro363=
XM_011514962.1:c.1089G>T XP_011513264.1:p.Pro363=
XM_011514963.1:c.915G>T XP_011513265.1:p.Pro305=
XM_011514964.1:c.1089G>T XP_011513266.1:p.Pro363=
XM_011514965.1:c.1089G>T XP_011513267.1:p.Pro363=
XM_011514966.1:c.417G>T XP_011513268.1:p.Pro139=
XR_926323.1:n.1683G>T
NM_001024630.4:c.885G>T MANE Select NP_001019801.3:p.Pro295=
NM_001278478.2:c.843G>T NP_001265407.1:p.Pro281=
NM_001369405.1:c.843G>T NP_001356334.1:p.Pro281=
NM_001015051.4:c.885G>T NP_001015051.3:p.Pro295=