Canonical Allele Identifier: CA2678974066

Gene: RUNX2

Linked Data

• gnomAD v4: 6-45547508-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547508G>A , CM000668.2:g.45547508G>A	GRCh38
NC_000006.11:g.45515245G>A , CM000668.1:g.45515245G>A	GRCh37
NC_000006.10:g.45623223G>A	NCBI36
NG_008020.1:g.224192G>A
NG_008020.2:g.224192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*926G>A	ENSP00000496517.1:n.*926G>A
ENST00000647337.2:c.*203G>A MANE Select	ENSP00000495497.1:n.*203G>A
ENST00000359524.7:c.*203G>A	ENSP00000352514.5:n.*203G>A
ENST00000371432.7:c.*203G>A	ENSP00000360486.4:n.*203G>A
ENST00000371438.5:c.*203G>A	ENSP00000360493.1:n.*203G>A
ENST00000478660.6:c.*178+33855G>A	ENSP00000460188.1:n.*178+33855G>A
ENST00000576263.5:c.1021+35101G>A	ENSP00000458178.1:n.1021+35101G>A
NM_001015051.3:c.*203G>A	NP_001015051.3:n.*203G>A
NM_001024630.3:c.*203G>A	NP_001019801.3:n.*203G>A
NM_001278478.1:c.1661G>A	NP_001265407.1:n.1661G>A
XM_006715232.1:c.*203G>A	XP_006715295.1:n.*203G>A
XM_011514960.1:c.1225+35101G>A	XP_011513262.1:n.1225+35101G>A
XM_011514961.1:c.*203G>A	XP_011513263.1:n.*203G>A
XM_011514962.1:c.*203G>A	XP_011513264.1:n.*203G>A
XM_011514963.1:c.1051+35101G>A	XP_011513265.1:n.1051+35101G>A
XM_011514964.1:c.1435+538G>A	XP_011513266.1:n.1435+538G>A
XM_011514966.1:c.553+35101G>A	XP_011513268.1:n.553+35101G>A
NM_001024630.4:c.*203G>A MANE Select	NP_001019801.3:n.*203G>A
NM_001278478.2:c.*203G>A	NP_001265407.1:n.*203G>A
NM_001369405.1:c.*203G>A	NP_001356334.1:n.*203G>A
NM_001015051.4:c.*203G>A	NP_001015051.3:n.*203G>A