Canonical Allele Identifier: CA3836521

Gene: RUNX2

Linked Data

• dbSNP Id: rs779939748
• ExAC: 6:45480025 A / G
• gnomAD v2: 6-45480025-A-G
• gnomAD v4: 6-45512288-A-G
• MyVariant Identifiers: chr6:g.45480025A>G (hg19) ; chr6:g.45512288A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45512288A>G , CM000668.2:g.45512288A>G	GRCh38
NC_000006.11:g.45480025A>G , CM000668.1:g.45480025A>G	GRCh37
NC_000006.10:g.45588003A>G	NCBI36
NG_008020.1:g.188972A>G
NG_008020.2:g.188972A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.860A>G	ENSP00000496517.1:p.Gln287Arg
ENST00000647337.2:c.902A>G MANE Select	ENSP00000495497.1:p.Gln301Arg
ENST00000359524.7:c.860A>G	ENSP00000352514.5:p.Gln287Arg
ENST00000371432.7:c.902A>G	ENSP00000360486.4:p.Gln301Arg
ENST00000371436.10:c.902A>G	ENSP00000360491.6:p.Gln301Arg
ENST00000371438.5:c.902A>G	ENSP00000360493.1:p.Gln301Arg
ENST00000465038.6:c.902A>G	ENSP00000420707.2:p.Gln301Arg
ENST00000478660.6:c.686A>G	ENSP00000460188.1:p.Gln229Arg
ENST00000483377.5:c.*423A>G	ENSP00000461357.1:n.*423A>G
ENST00000576263.5:c.902A>G	ENSP00000458178.1:p.Gln301Arg
ENST00000625924.1:c.860A>G	ENSP00000485863.1:p.Gln287Arg
NM_001015051.3:c.902A>G	NP_001015051.3:p.Gln301Arg
NM_001024630.3:c.902A>G	NP_001019801.3:p.Gln301Arg
NM_001278478.1:c.860A>G	NP_001265407.1:p.Gln287Arg
XM_006715232.1:c.686A>G	XP_006715295.1:p.Gln229Arg
XM_011514960.1:c.1106A>G	XP_011513262.1:p.Gln369Arg
XM_011514961.1:c.1106A>G	XP_011513263.1:p.Gln369Arg
XM_011514962.1:c.1106A>G	XP_011513264.1:p.Gln369Arg
XM_011514963.1:c.932A>G	XP_011513265.1:p.Gln311Arg
XM_011514964.1:c.1106A>G	XP_011513266.1:p.Gln369Arg
XM_011514965.1:c.1106A>G	XP_011513267.1:p.Gln369Arg
XM_011514966.1:c.434A>G	XP_011513268.1:p.Gln145Arg
XR_926323.1:n.1700A>G
NM_001024630.4:c.902A>G MANE Select	NP_001019801.3:p.Gln301Arg
NM_001278478.2:c.860A>G	NP_001265407.1:p.Gln287Arg
NM_001369405.1:c.860A>G	NP_001356334.1:p.Gln287Arg
NM_001015051.4:c.902A>G	NP_001015051.3:p.Gln301Arg