Canonical Allele Identifier: CA138460573

Gene: RUNX2

Linked Data

• dbSNP Id: rs954066690
• gnomAD v3: 6-45547446-C-T
• gnomAD v4: 6-45547446-C-T
• MyVariant Identifiers: chr6:g.45515183C>T (hg19) ; chr6:g.45547446C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547446C>T , CM000668.2:g.45547446C>T	GRCh38
NC_000006.11:g.45515183C>T , CM000668.1:g.45515183C>T	GRCh37
NC_000006.10:g.45623161C>T	NCBI36
NG_008020.1:g.224130C>T
NG_008020.2:g.224130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*864C>T	ENSP00000496517.1:n.*864C>T
ENST00000647337.2:c.*141C>T MANE Select	ENSP00000495497.1:n.*141C>T
ENST00000359524.7:c.*141C>T	ENSP00000352514.5:n.*141C>T
ENST00000371432.7:c.*141C>T	ENSP00000360486.4:n.*141C>T
ENST00000371438.5:c.*141C>T	ENSP00000360493.1:n.*141C>T
ENST00000478660.6:c.*178+33793C>T	ENSP00000460188.1:n.*178+33793C>T
ENST00000576263.5:c.1021+35039C>T	ENSP00000458178.1:n.1021+35039C>T
NM_001015051.3:c.*141C>T	NP_001015051.3:n.*141C>T
NM_001024630.3:c.*141C>T	NP_001019801.3:n.*141C>T
NM_001278478.1:c.1599C>T	NP_001265407.1:n.1599C>T
XM_006715232.1:c.*141C>T	XP_006715295.1:n.*141C>T
XM_011514960.1:c.1225+35039C>T	XP_011513262.1:n.1225+35039C>T
XM_011514961.1:c.*141C>T	XP_011513263.1:n.*141C>T
XM_011514962.1:c.*141C>T	XP_011513264.1:n.*141C>T
XM_011514963.1:c.1051+35039C>T	XP_011513265.1:n.1051+35039C>T
XM_011514964.1:c.1435+476C>T	XP_011513266.1:n.1435+476C>T
XM_011514966.1:c.553+35039C>T	XP_011513268.1:n.553+35039C>T
NM_001024630.4:c.*141C>T MANE Select	NP_001019801.3:n.*141C>T
NM_001278478.2:c.*141C>T	NP_001265407.1:n.*141C>T
NM_001369405.1:c.*141C>T	NP_001356334.1:n.*141C>T
NM_001015051.4:c.*141C>T	NP_001015051.3:n.*141C>T