Canonical Allele Identifier: CA450153062

Gene: RUNX2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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