Canonical Allele Identifier: CA450348204

Gene: RUNX2

Linked Data

• MyVariant Identifiers: chr6:g.45514985C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547248C>A , CM000668.2:g.45547248C>A	GRCh38
NC_000006.11:g.45514985C>A , CM000668.1:g.45514985C>A	GRCh37
NC_000006.10:g.45622963C>A	NCBI36
NG_008020.1:g.223932C>A
NG_008020.2:g.223932C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*666C>A	ENSP00000496517.1:n.*666C>A
ENST00000647337.2:c.1509C>A MANE Select	ENSP00000495497.1:p.Ser503=
ENST00000359524.7:c.1467C>A	ENSP00000352514.5:p.Ser489=
ENST00000371432.7:c.1443C>A	ENSP00000360486.4:p.Ser481=
ENST00000371436.10:c.1443C>A	ENSP00000360491.6:p.Ser481=
ENST00000371438.5:c.1509C>A	ENSP00000360493.1:p.Ser503=
ENST00000465038.6:c.1509C>A	ENSP00000420707.2:p.Ser503=
ENST00000478660.6:c.*178+33595C>A	ENSP00000460188.1:n.*178+33595C>A
ENST00000576263.5:c.1021+34841C>A	ENSP00000458178.1:n.1021+34841C>A
ENST00000625924.1:c.1401C>A	ENSP00000485863.1:p.Ser467=
NM_001015051.3:c.1443C>A	NP_001015051.3:p.Ser481=
NM_001024630.3:c.1509C>A	NP_001019801.3:p.Ser503=
NM_001278478.1:c.1401C>A	NP_001265407.1:p.Ser467=
XM_006715232.1:c.1293C>A	XP_006715295.1:p.Ser431=
XM_011514960.1:c.1225+34841C>A	XP_011513262.1:n.1225+34841C>A
XM_011514961.1:c.1713C>A	XP_011513263.1:p.Ser571=
XM_011514962.1:c.1647C>A	XP_011513264.1:p.Ser549=
XM_011514963.1:c.1051+34841C>A	XP_011513265.1:n.1051+34841C>A
XM_011514964.1:c.1435+278C>A	XP_011513266.1:n.1435+278C>A
XM_011514966.1:c.553+34841C>A	XP_011513268.1:n.553+34841C>A
NM_001024630.4:c.1509C>A MANE Select	NP_001019801.3:p.Ser503=
NM_001278478.2:c.1401C>A	NP_001265407.1:p.Ser467=
NM_001369405.1:c.1467C>A	NP_001356334.1:p.Ser489=
NM_001015051.4:c.1443C>A	NP_001015051.3:p.Ser481=