Canonical Allele Identifier: CA450153060
Gene: RUNX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.45480017C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45512280C>G , CM000668.2:g.45512280C>G GRCh38
NC_000006.11:g.45480017C>G , CM000668.1:g.45480017C>G GRCh37
NC_000006.10:g.45587995C>G NCBI36
NG_008020.1:g.188964C>G
NG_008020.2:g.188964C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000646519.1:c.852C>G ENSP00000496517.1:p.Ser284=
ENST00000647337.2:c.894C>G MANE Select ENSP00000495497.1:p.Ser298=
ENST00000359524.7:c.852C>G ENSP00000352514.5:p.Ser284=
ENST00000371432.7:c.894C>G ENSP00000360486.4:p.Ser298=
ENST00000371436.10:c.894C>G ENSP00000360491.6:p.Ser298=
ENST00000371438.5:c.894C>G ENSP00000360493.1:p.Ser298=
ENST00000465038.6:c.894C>G ENSP00000420707.2:p.Ser298=
ENST00000478660.6:c.678C>G ENSP00000460188.1:p.Ser226=
ENST00000483377.5:c.*415C>G ENSP00000461357.1:n.*415C>G
ENST00000576263.5:c.894C>G ENSP00000458178.1:p.Ser298=
ENST00000625924.1:c.852C>G ENSP00000485863.1:p.Ser284=
NM_001015051.3:c.894C>G NP_001015051.3:p.Ser298=
NM_001024630.3:c.894C>G NP_001019801.3:p.Ser298=
NM_001278478.1:c.852C>G NP_001265407.1:p.Ser284=
XM_006715232.1:c.678C>G XP_006715295.1:p.Ser226=
XM_011514960.1:c.1098C>G XP_011513262.1:p.Ser366=
XM_011514961.1:c.1098C>G XP_011513263.1:p.Ser366=
XM_011514962.1:c.1098C>G XP_011513264.1:p.Ser366=
XM_011514963.1:c.924C>G XP_011513265.1:p.Ser308=
XM_011514964.1:c.1098C>G XP_011513266.1:p.Ser366=
XM_011514965.1:c.1098C>G XP_011513267.1:p.Ser366=
XM_011514966.1:c.426C>G XP_011513268.1:p.Ser142=
XR_926323.1:n.1692C>G
NM_001024630.4:c.894C>G MANE Select NP_001019801.3:p.Ser298=
NM_001278478.2:c.852C>G NP_001265407.1:p.Ser284=
NM_001369405.1:c.852C>G NP_001356334.1:p.Ser284=
NM_001015051.4:c.894C>G NP_001015051.3:p.Ser298=