Canonical Allele Identifier: CA363957238

Gene: RUNX2

Linked Data

• gnomAD v4: 6-45547187-T-G
• MyVariant Identifiers: chr6:g.45514924T>G (hg19) ; chr6:g.45547187T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547187T>G , CM000668.2:g.45547187T>G	GRCh38
NC_000006.11:g.45514924T>G , CM000668.1:g.45514924T>G	GRCh37
NC_000006.10:g.45622902T>G	NCBI36
NG_008020.1:g.223871T>G
NG_008020.2:g.223871T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*605T>G	ENSP00000496517.1:n.*605T>G
ENST00000647337.2:c.1448T>G MANE Select	ENSP00000495497.1:p.Leu483Ter
ENST00000359524.7:c.1406T>G	ENSP00000352514.5:p.Leu469Ter
ENST00000371432.7:c.1382T>G	ENSP00000360486.4:p.Leu461Ter
ENST00000371436.10:c.1382T>G	ENSP00000360491.6:p.Leu461Ter
ENST00000371438.5:c.1448T>G	ENSP00000360493.1:p.Leu483Ter
ENST00000465038.6:c.1448T>G	ENSP00000420707.2:p.Leu483Ter
ENST00000478660.6:c.*178+33534T>G	ENSP00000460188.1:n.*178+33534T>G
ENST00000483377.5:c.*969T>G	ENSP00000461357.1:n.*969T>G
ENST00000576263.5:c.1021+34780T>G	ENSP00000458178.1:n.1021+34780T>G
ENST00000625924.1:c.1340T>G	ENSP00000485863.1:p.Leu447Ter
NM_001015051.3:c.1382T>G	NP_001015051.3:p.Leu461Ter
NM_001024630.3:c.1448T>G	NP_001019801.3:p.Leu483Ter
NM_001278478.1:c.1340T>G	NP_001265407.1:p.Leu447Ter
XM_006715232.1:c.1232T>G	XP_006715295.1:p.Leu411Ter
XM_011514960.1:c.1225+34780T>G	XP_011513262.1:n.1225+34780T>G
XM_011514961.1:c.1652T>G	XP_011513263.1:p.Leu551Ter
XM_011514962.1:c.1586T>G	XP_011513264.1:p.Leu529Ter
XM_011514963.1:c.1051+34780T>G	XP_011513265.1:n.1051+34780T>G
XM_011514964.1:c.1435+217T>G	XP_011513266.1:n.1435+217T>G
XM_011514966.1:c.553+34780T>G	XP_011513268.1:n.553+34780T>G
NM_001024630.4:c.1448T>G MANE Select	NP_001019801.3:p.Leu483Ter
NM_001278478.2:c.1340T>G	NP_001265407.1:p.Leu447Ter
NM_001369405.1:c.1406T>G	NP_001356334.1:p.Leu469Ter
NM_001015051.4:c.1382T>G	NP_001015051.3:p.Leu461Ter