Canonical Allele Identifier: CA1088542979

Gene: RUNX2

Linked Data

• dbSNP Id: rs1802432545
• gnomAD v3: 6-45547310-C-T
• gnomAD v4: 6-45547310-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547310C>T , CM000668.2:g.45547310C>T	GRCh38
NC_000006.11:g.45515047C>T , CM000668.1:g.45515047C>T	GRCh37
NC_000006.10:g.45623025C>T	NCBI36
NG_008020.1:g.223994C>T
NG_008020.2:g.223994C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*728C>T	ENSP00000496517.1:n.*728C>T
ENST00000647337.2:c.*5C>T MANE Select	ENSP00000495497.1:n.*5C>T
ENST00000359524.7:c.*5C>T	ENSP00000352514.5:n.*5C>T
ENST00000371432.7:c.*5C>T	ENSP00000360486.4:n.*5C>T
ENST00000371436.10:c.1505C>T	ENSP00000360491.6:n.1505C>T
ENST00000371438.5:c.*5C>T	ENSP00000360493.1:n.*5C>T
ENST00000478660.6:c.*178+33657C>T	ENSP00000460188.1:n.*178+33657C>T
ENST00000576263.5:c.1021+34903C>T	ENSP00000458178.1:n.1021+34903C>T
NM_001015051.3:c.*5C>T	NP_001015051.3:n.*5C>T
NM_001024630.3:c.*5C>T	NP_001019801.3:n.*5C>T
NM_001278478.1:c.1463C>T	NP_001265407.1:n.1463C>T
XM_006715232.1:c.*5C>T	XP_006715295.1:n.*5C>T
XM_011514960.1:c.1225+34903C>T	XP_011513262.1:n.1225+34903C>T
XM_011514961.1:c.*5C>T	XP_011513263.1:n.*5C>T
XM_011514962.1:c.*5C>T	XP_011513264.1:n.*5C>T
XM_011514963.1:c.1051+34903C>T	XP_011513265.1:n.1051+34903C>T
XM_011514964.1:c.1435+340C>T	XP_011513266.1:n.1435+340C>T
XM_011514966.1:c.553+34903C>T	XP_011513268.1:n.553+34903C>T
NM_001024630.4:c.*5C>T MANE Select	NP_001019801.3:n.*5C>T
NM_001278478.2:c.*5C>T	NP_001265407.1:n.*5C>T
NM_001369405.1:c.*5C>T	NP_001356334.1:n.*5C>T
NM_001015051.4:c.*5C>T	NP_001015051.3:n.*5C>T