Canonical Allele Identifier: CA363957185

Gene: RUNX2

Linked Data

• MyVariant Identifiers: chr6:g.45514897C>T (hg19) ; chr6:g.45547160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547160C>T , CM000668.2:g.45547160C>T	GRCh38
NC_000006.11:g.45514897C>T , CM000668.1:g.45514897C>T	GRCh37
NC_000006.10:g.45622875C>T	NCBI36
NG_008020.1:g.223844C>T
NG_008020.2:g.223844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*578C>T	ENSP00000496517.1:n.*578C>T
ENST00000647337.2:c.1421C>T MANE Select	ENSP00000495497.1:p.Thr474Ile
ENST00000359524.7:c.1379C>T	ENSP00000352514.5:p.Thr460Ile
ENST00000371432.7:c.1355C>T	ENSP00000360486.4:p.Thr452Ile
ENST00000371436.10:c.1355C>T	ENSP00000360491.6:p.Thr452Ile
ENST00000371438.5:c.1421C>T	ENSP00000360493.1:p.Thr474Ile
ENST00000465038.6:c.1421C>T	ENSP00000420707.2:p.Thr474Ile
ENST00000478660.6:c.*178+33507C>T	ENSP00000460188.1:n.*178+33507C>T
ENST00000483377.5:c.*942C>T	ENSP00000461357.1:n.*942C>T
ENST00000576263.5:c.1021+34753C>T	ENSP00000458178.1:n.1021+34753C>T
ENST00000625924.1:c.1313C>T	ENSP00000485863.1:p.Thr438Ile
NM_001015051.3:c.1355C>T	NP_001015051.3:p.Thr452Ile
NM_001024630.3:c.1421C>T	NP_001019801.3:p.Thr474Ile
NM_001278478.1:c.1313C>T	NP_001265407.1:p.Thr438Ile
XM_006715232.1:c.1205C>T	XP_006715295.1:p.Thr402Ile
XM_011514960.1:c.1225+34753C>T	XP_011513262.1:n.1225+34753C>T
XM_011514961.1:c.1625C>T	XP_011513263.1:p.Thr542Ile
XM_011514962.1:c.1559C>T	XP_011513264.1:p.Thr520Ile
XM_011514963.1:c.1051+34753C>T	XP_011513265.1:n.1051+34753C>T
XM_011514964.1:c.1435+190C>T	XP_011513266.1:n.1435+190C>T
XM_011514966.1:c.553+34753C>T	XP_011513268.1:n.553+34753C>T
NM_001024630.4:c.1421C>T MANE Select	NP_001019801.3:p.Thr474Ile
NM_001278478.2:c.1313C>T	NP_001265407.1:p.Thr438Ile
NM_001369405.1:c.1379C>T	NP_001356334.1:p.Thr460Ile
NM_001015051.4:c.1355C>T	NP_001015051.3:p.Thr452Ile