Canonical Allele Identifier: CA363957348

Gene: RUNX2

Linked Data

• MyVariant Identifiers: chr6:g.45514972G>T (hg19) ; chr6:g.45547235G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547235G>T , CM000668.2:g.45547235G>T	GRCh38
NC_000006.11:g.45514972G>T , CM000668.1:g.45514972G>T	GRCh37
NC_000006.10:g.45622950G>T	NCBI36
NG_008020.1:g.223919G>T
NG_008020.2:g.223919G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*653G>T	ENSP00000496517.1:n.*653G>T
ENST00000647337.2:c.1496G>T MANE Select	ENSP00000495497.1:p.Ser499Ile
ENST00000359524.7:c.1454G>T	ENSP00000352514.5:p.Ser485Ile
ENST00000371432.7:c.1430G>T	ENSP00000360486.4:p.Ser477Ile
ENST00000371436.10:c.1430G>T	ENSP00000360491.6:p.Ser477Ile
ENST00000371438.5:c.1496G>T	ENSP00000360493.1:p.Ser499Ile
ENST00000465038.6:c.1496G>T	ENSP00000420707.2:p.Ser499Ile
ENST00000478660.6:c.*178+33582G>T	ENSP00000460188.1:n.*178+33582G>T
ENST00000576263.5:c.1021+34828G>T	ENSP00000458178.1:n.1021+34828G>T
ENST00000625924.1:c.1388G>T	ENSP00000485863.1:p.Ser463Ile
NM_001015051.3:c.1430G>T	NP_001015051.3:p.Ser477Ile
NM_001024630.3:c.1496G>T	NP_001019801.3:p.Ser499Ile
NM_001278478.1:c.1388G>T	NP_001265407.1:p.Ser463Ile
XM_006715232.1:c.1280G>T	XP_006715295.1:p.Ser427Ile
XM_011514960.1:c.1225+34828G>T	XP_011513262.1:n.1225+34828G>T
XM_011514961.1:c.1700G>T	XP_011513263.1:p.Ser567Ile
XM_011514962.1:c.1634G>T	XP_011513264.1:p.Ser545Ile
XM_011514963.1:c.1051+34828G>T	XP_011513265.1:n.1051+34828G>T
XM_011514964.1:c.1435+265G>T	XP_011513266.1:n.1435+265G>T
XM_011514966.1:c.553+34828G>T	XP_011513268.1:n.553+34828G>T
NM_001024630.4:c.1496G>T MANE Select	NP_001019801.3:p.Ser499Ile
NM_001278478.2:c.1388G>T	NP_001265407.1:p.Ser463Ile
NM_001369405.1:c.1454G>T	NP_001356334.1:p.Ser485Ile
NM_001015051.4:c.1430G>T	NP_001015051.3:p.Ser477Ile