Canonical Allele Identifier: CA567156313

Gene: RUNX2

Linked Data

• dbSNP Id: rs200866173
• gnomAD v2: 6-45515050-C-A
• gnomAD v4: 6-45547313-C-A
• MyVariant Identifiers: chr6:g.45515050C>A (hg19) ; chr6:g.45547313C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547313C>A , CM000668.2:g.45547313C>A	GRCh38
NC_000006.11:g.45515050C>A , CM000668.1:g.45515050C>A	GRCh37
NC_000006.10:g.45623028C>A	NCBI36
NG_008020.1:g.223997C>A
NG_008020.2:g.223997C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*731C>A	ENSP00000496517.1:n.*731C>A
ENST00000647337.2:c.*8C>A MANE Select	ENSP00000495497.1:n.*8C>A
ENST00000359524.7:c.*8C>A	ENSP00000352514.5:n.*8C>A
ENST00000371432.7:c.*8C>A	ENSP00000360486.4:n.*8C>A
ENST00000371436.10:c.1508C>A	ENSP00000360491.6:n.1508C>A
ENST00000371438.5:c.*8C>A	ENSP00000360493.1:n.*8C>A
ENST00000478660.6:c.*178+33660C>A	ENSP00000460188.1:n.*178+33660C>A
ENST00000576263.5:c.1021+34906C>A	ENSP00000458178.1:n.1021+34906C>A
NM_001015051.3:c.*8C>A	NP_001015051.3:n.*8C>A
NM_001024630.3:c.*8C>A	NP_001019801.3:n.*8C>A
NM_001278478.1:c.1466C>A	NP_001265407.1:n.1466C>A
XM_006715232.1:c.*8C>A	XP_006715295.1:n.*8C>A
XM_011514960.1:c.1225+34906C>A	XP_011513262.1:n.1225+34906C>A
XM_011514961.1:c.*8C>A	XP_011513263.1:n.*8C>A
XM_011514962.1:c.*8C>A	XP_011513264.1:n.*8C>A
XM_011514963.1:c.1051+34906C>A	XP_011513265.1:n.1051+34906C>A
XM_011514964.1:c.1435+343C>A	XP_011513266.1:n.1435+343C>A
XM_011514966.1:c.553+34906C>A	XP_011513268.1:n.553+34906C>A
NM_001024630.4:c.*8C>A MANE Select	NP_001019801.3:n.*8C>A
NM_001278478.2:c.*8C>A	NP_001265407.1:n.*8C>A
NM_001369405.1:c.*8C>A	NP_001356334.1:n.*8C>A
NM_001015051.4:c.*8C>A	NP_001015051.3:n.*8C>A