Canonical Allele Identifier: CA138460550

Gene: RUNX2

Linked Data

• dbSNP Id: rs780694693
• gnomAD v2: 6-45515085-C-A
• gnomAD v3: 6-45547348-C-A
• gnomAD v4: 6-45547348-C-A
• MyVariant Identifiers: chr6:g.45515085C>A (hg19) ; chr6:g.45547348C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547348C>A , CM000668.2:g.45547348C>A	GRCh38
NC_000006.11:g.45515085C>A , CM000668.1:g.45515085C>A	GRCh37
NC_000006.10:g.45623063C>A	NCBI36
NG_008020.1:g.224032C>A
NG_008020.2:g.224032C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*766C>A	ENSP00000496517.1:n.*766C>A
ENST00000647337.2:c.*43C>A MANE Select	ENSP00000495497.1:n.*43C>A
ENST00000359524.7:c.*43C>A	ENSP00000352514.5:n.*43C>A
ENST00000371432.7:c.*43C>A	ENSP00000360486.4:n.*43C>A
ENST00000371436.10:c.1543C>A	ENSP00000360491.6:n.1543C>A
ENST00000371438.5:c.*43C>A	ENSP00000360493.1:n.*43C>A
ENST00000478660.6:c.*178+33695C>A	ENSP00000460188.1:n.*178+33695C>A
ENST00000576263.5:c.1021+34941C>A	ENSP00000458178.1:n.1021+34941C>A
NM_001015051.3:c.*43C>A	NP_001015051.3:n.*43C>A
NM_001024630.3:c.*43C>A	NP_001019801.3:n.*43C>A
NM_001278478.1:c.1501C>A	NP_001265407.1:n.1501C>A
XM_006715232.1:c.*43C>A	XP_006715295.1:n.*43C>A
XM_011514960.1:c.1225+34941C>A	XP_011513262.1:n.1225+34941C>A
XM_011514961.1:c.*43C>A	XP_011513263.1:n.*43C>A
XM_011514962.1:c.*43C>A	XP_011513264.1:n.*43C>A
XM_011514963.1:c.1051+34941C>A	XP_011513265.1:n.1051+34941C>A
XM_011514964.1:c.1435+378C>A	XP_011513266.1:n.1435+378C>A
XM_011514966.1:c.553+34941C>A	XP_011513268.1:n.553+34941C>A
NM_001024630.4:c.*43C>A MANE Select	NP_001019801.3:n.*43C>A
NM_001278478.2:c.*43C>A	NP_001265407.1:n.*43C>A
NM_001369405.1:c.*43C>A	NP_001356334.1:n.*43C>A
NM_001015051.4:c.*43C>A	NP_001015051.3:n.*43C>A