Canonical Allele Identifier: CA2578635039

Gene: RUNX2

Linked Data

• gnomAD v4: 6-45547358-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547358A>T , CM000668.2:g.45547358A>T	GRCh38
NC_000006.11:g.45515095A>T , CM000668.1:g.45515095A>T	GRCh37
NC_000006.10:g.45623073A>T	NCBI36
NG_008020.1:g.224042A>T
NG_008020.2:g.224042A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*776A>T	ENSP00000496517.1:n.*776A>T
ENST00000647337.2:c.*53A>T MANE Select	ENSP00000495497.1:n.*53A>T
ENST00000359524.7:c.*53A>T	ENSP00000352514.5:n.*53A>T
ENST00000371432.7:c.*53A>T	ENSP00000360486.4:n.*53A>T
ENST00000371436.10:c.1553A>T	ENSP00000360491.6:n.1553A>T
ENST00000371438.5:c.*53A>T	ENSP00000360493.1:n.*53A>T
ENST00000478660.6:c.*178+33705A>T	ENSP00000460188.1:n.*178+33705A>T
ENST00000576263.5:c.1021+34951A>T	ENSP00000458178.1:n.1021+34951A>T
NM_001015051.3:c.*53A>T	NP_001015051.3:n.*53A>T
NM_001024630.3:c.*53A>T	NP_001019801.3:n.*53A>T
NM_001278478.1:c.1511A>T	NP_001265407.1:n.1511A>T
XM_006715232.1:c.*53A>T	XP_006715295.1:n.*53A>T
XM_011514960.1:c.1225+34951A>T	XP_011513262.1:n.1225+34951A>T
XM_011514961.1:c.*53A>T	XP_011513263.1:n.*53A>T
XM_011514962.1:c.*53A>T	XP_011513264.1:n.*53A>T
XM_011514963.1:c.1051+34951A>T	XP_011513265.1:n.1051+34951A>T
XM_011514964.1:c.1435+388A>T	XP_011513266.1:n.1435+388A>T
XM_011514966.1:c.553+34951A>T	XP_011513268.1:n.553+34951A>T
NM_001024630.4:c.*53A>T MANE Select	NP_001019801.3:n.*53A>T
NM_001278478.2:c.*53A>T	NP_001265407.1:n.*53A>T
NM_001369405.1:c.*53A>T	NP_001356334.1:n.*53A>T
NM_001015051.4:c.*53A>T	NP_001015051.3:n.*53A>T