Canonical Allele Identifier: CA138460589

Gene: RUNX2

Linked Data

• dbSNP Id: rs977325759
• gnomAD v2: 6-45515264-T-G
• gnomAD v3: 6-45547527-T-G
• gnomAD v4: 6-45547527-T-G
• MyVariant Identifiers: chr6:g.45515264T>G (hg19) ; chr6:g.45547527T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547527T>G , CM000668.2:g.45547527T>G	GRCh38
NC_000006.11:g.45515264T>G , CM000668.1:g.45515264T>G	GRCh37
NC_000006.10:g.45623242T>G	NCBI36
NG_008020.1:g.224211T>G
NG_008020.2:g.224211T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*945T>G	ENSP00000496517.1:n.*945T>G
ENST00000647337.2:c.*222T>G MANE Select	ENSP00000495497.1:n.*222T>G
ENST00000359524.7:c.*222T>G	ENSP00000352514.5:n.*222T>G
ENST00000371432.7:c.*222T>G	ENSP00000360486.4:n.*222T>G
ENST00000371438.5:c.*222T>G	ENSP00000360493.1:n.*222T>G
ENST00000478660.6:c.*178+33874T>G	ENSP00000460188.1:n.*178+33874T>G
ENST00000576263.5:c.1021+35120T>G	ENSP00000458178.1:n.1021+35120T>G
NM_001015051.3:c.*222T>G	NP_001015051.3:n.*222T>G
NM_001024630.3:c.*222T>G	NP_001019801.3:n.*222T>G
NM_001278478.1:c.1680T>G	NP_001265407.1:n.1680T>G
XM_006715232.1:c.*222T>G	XP_006715295.1:n.*222T>G
XM_011514960.1:c.1225+35120T>G	XP_011513262.1:n.1225+35120T>G
XM_011514961.1:c.*222T>G	XP_011513263.1:n.*222T>G
XM_011514962.1:c.*222T>G	XP_011513264.1:n.*222T>G
XM_011514963.1:c.1051+35120T>G	XP_011513265.1:n.1051+35120T>G
XM_011514964.1:c.1435+557T>G	XP_011513266.1:n.1435+557T>G
XM_011514966.1:c.553+35120T>G	XP_011513268.1:n.553+35120T>G
NM_001024630.4:c.*222T>G MANE Select	NP_001019801.3:n.*222T>G
NM_001278478.2:c.*222T>G	NP_001265407.1:n.*222T>G
NM_001369405.1:c.*222T>G	NP_001356334.1:n.*222T>G
NM_001015051.4:c.*222T>G	NP_001015051.3:n.*222T>G