Canonical Allele Identifier: CA363957312

Gene: RUNX2

Linked Data

• MyVariant Identifiers: chr6:g.45514956G>A (hg19) ; chr6:g.45547219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547219G>A , CM000668.2:g.45547219G>A	GRCh38
NC_000006.11:g.45514956G>A , CM000668.1:g.45514956G>A	GRCh37
NC_000006.10:g.45622934G>A	NCBI36
NG_008020.1:g.223903G>A
NG_008020.2:g.223903G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*637G>A	ENSP00000496517.1:n.*637G>A
ENST00000647337.2:c.1480G>A MANE Select	ENSP00000495497.1:p.Val494Ile
ENST00000359524.7:c.1438G>A	ENSP00000352514.5:p.Val480Ile
ENST00000371432.7:c.1414G>A	ENSP00000360486.4:p.Val472Ile
ENST00000371436.10:c.1414G>A	ENSP00000360491.6:p.Val472Ile
ENST00000371438.5:c.1480G>A	ENSP00000360493.1:p.Val494Ile
ENST00000465038.6:c.1480G>A	ENSP00000420707.2:p.Val494Ile
ENST00000478660.6:c.*178+33566G>A	ENSP00000460188.1:n.*178+33566G>A
ENST00000576263.5:c.1021+34812G>A	ENSP00000458178.1:n.1021+34812G>A
ENST00000625924.1:c.1372G>A	ENSP00000485863.1:p.Val458Ile
NM_001015051.3:c.1414G>A	NP_001015051.3:p.Val472Ile
NM_001024630.3:c.1480G>A	NP_001019801.3:p.Val494Ile
NM_001278478.1:c.1372G>A	NP_001265407.1:p.Val458Ile
XM_006715232.1:c.1264G>A	XP_006715295.1:p.Val422Ile
XM_011514960.1:c.1225+34812G>A	XP_011513262.1:n.1225+34812G>A
XM_011514961.1:c.1684G>A	XP_011513263.1:p.Val562Ile
XM_011514962.1:c.1618G>A	XP_011513264.1:p.Val540Ile
XM_011514963.1:c.1051+34812G>A	XP_011513265.1:n.1051+34812G>A
XM_011514964.1:c.1435+249G>A	XP_011513266.1:n.1435+249G>A
XM_011514966.1:c.553+34812G>A	XP_011513268.1:n.553+34812G>A
NM_001024630.4:c.1480G>A MANE Select	NP_001019801.3:p.Val494Ile
NM_001278478.2:c.1372G>A	NP_001265407.1:p.Val458Ile
NM_001369405.1:c.1438G>A	NP_001356334.1:p.Val480Ile
NM_001015051.4:c.1414G>A	NP_001015051.3:p.Val472Ile