Canonical Allele Identifier: CA363957311

Gene: RUNX2

Linked Data

• gnomAD v4: 6-45547217-G-T
• MyVariant Identifiers: chr6:g.45514954G>T (hg19) ; chr6:g.45547217G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547217G>T , CM000668.2:g.45547217G>T	GRCh38
NC_000006.11:g.45514954G>T , CM000668.1:g.45514954G>T	GRCh37
NC_000006.10:g.45622932G>T	NCBI36
NG_008020.1:g.223901G>T
NG_008020.2:g.223901G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*635G>T	ENSP00000496517.1:n.*635G>T
ENST00000647337.2:c.1478G>T MANE Select	ENSP00000495497.1:p.Gly493Val
ENST00000359524.7:c.1436G>T	ENSP00000352514.5:p.Gly479Val
ENST00000371432.7:c.1412G>T	ENSP00000360486.4:p.Gly471Val
ENST00000371436.10:c.1412G>T	ENSP00000360491.6:p.Gly471Val
ENST00000371438.5:c.1478G>T	ENSP00000360493.1:p.Gly493Val
ENST00000465038.6:c.1478G>T	ENSP00000420707.2:p.Gly493Val
ENST00000478660.6:c.*178+33564G>T	ENSP00000460188.1:n.*178+33564G>T
ENST00000576263.5:c.1021+34810G>T	ENSP00000458178.1:n.1021+34810G>T
ENST00000625924.1:c.1370G>T	ENSP00000485863.1:p.Gly457Val
NM_001015051.3:c.1412G>T	NP_001015051.3:p.Gly471Val
NM_001024630.3:c.1478G>T	NP_001019801.3:p.Gly493Val
NM_001278478.1:c.1370G>T	NP_001265407.1:p.Gly457Val
XM_006715232.1:c.1262G>T	XP_006715295.1:p.Gly421Val
XM_011514960.1:c.1225+34810G>T	XP_011513262.1:n.1225+34810G>T
XM_011514961.1:c.1682G>T	XP_011513263.1:p.Gly561Val
XM_011514962.1:c.1616G>T	XP_011513264.1:p.Gly539Val
XM_011514963.1:c.1051+34810G>T	XP_011513265.1:n.1051+34810G>T
XM_011514964.1:c.1435+247G>T	XP_011513266.1:n.1435+247G>T
XM_011514966.1:c.553+34810G>T	XP_011513268.1:n.553+34810G>T
NM_001024630.4:c.1478G>T MANE Select	NP_001019801.3:p.Gly493Val
NM_001278478.2:c.1370G>T	NP_001265407.1:p.Gly457Val
NM_001369405.1:c.1436G>T	NP_001356334.1:p.Gly479Val
NM_001015051.4:c.1412G>T	NP_001015051.3:p.Gly471Val