Canonical Allele Identifier: CA363957276

Gene: RUNX2

Linked Data

• MyVariant Identifiers: chr6:g.45514941A>T (hg19) ; chr6:g.45547204A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547204A>T , CM000668.2:g.45547204A>T	GRCh38
NC_000006.11:g.45514941A>T , CM000668.1:g.45514941A>T	GRCh37
NC_000006.10:g.45622919A>T	NCBI36
NG_008020.1:g.223888A>T
NG_008020.2:g.223888A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*622A>T	ENSP00000496517.1:n.*622A>T
ENST00000647337.2:c.1465A>T MANE Select	ENSP00000495497.1:p.Asn489Tyr
ENST00000359524.7:c.1423A>T	ENSP00000352514.5:p.Asn475Tyr
ENST00000371432.7:c.1399A>T	ENSP00000360486.4:p.Asn467Tyr
ENST00000371436.10:c.1399A>T	ENSP00000360491.6:p.Asn467Tyr
ENST00000371438.5:c.1465A>T	ENSP00000360493.1:p.Asn489Tyr
ENST00000465038.6:c.1465A>T	ENSP00000420707.2:p.Asn489Tyr
ENST00000478660.6:c.*178+33551A>T	ENSP00000460188.1:n.*178+33551A>T
ENST00000483377.5:c.*986A>T	ENSP00000461357.1:n.*986A>T
ENST00000576263.5:c.1021+34797A>T	ENSP00000458178.1:n.1021+34797A>T
ENST00000625924.1:c.1357A>T	ENSP00000485863.1:p.Asn453Tyr
NM_001015051.3:c.1399A>T	NP_001015051.3:p.Asn467Tyr
NM_001024630.3:c.1465A>T	NP_001019801.3:p.Asn489Tyr
NM_001278478.1:c.1357A>T	NP_001265407.1:p.Asn453Tyr
XM_006715232.1:c.1249A>T	XP_006715295.1:p.Asn417Tyr
XM_011514960.1:c.1225+34797A>T	XP_011513262.1:n.1225+34797A>T
XM_011514961.1:c.1669A>T	XP_011513263.1:p.Asn557Tyr
XM_011514962.1:c.1603A>T	XP_011513264.1:p.Asn535Tyr
XM_011514963.1:c.1051+34797A>T	XP_011513265.1:n.1051+34797A>T
XM_011514964.1:c.1435+234A>T	XP_011513266.1:n.1435+234A>T
XM_011514966.1:c.553+34797A>T	XP_011513268.1:n.553+34797A>T
NM_001024630.4:c.1465A>T MANE Select	NP_001019801.3:p.Asn489Tyr
NM_001278478.2:c.1357A>T	NP_001265407.1:p.Asn453Tyr
NM_001369405.1:c.1423A>T	NP_001356334.1:p.Asn475Tyr
NM_001015051.4:c.1399A>T	NP_001015051.3:p.Asn467Tyr