Canonical Allele Identifier: CA450152581

Gene: RUNX2

Linked Data

• gnomAD v4: 6-45437948-C-A
• MyVariant Identifiers: chr6:g.45405685C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45437948C>A , CM000668.2:g.45437948C>A	GRCh38
NC_000006.11:g.45405685C>A , CM000668.1:g.45405685C>A	GRCh37
NC_000006.10:g.45513663C>A	NCBI36
NG_008020.1:g.114632C>A
NG_008020.2:g.114632C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.540C>A	ENSP00000496517.1:p.Gly180=
ENST00000647337.2:c.582C>A MANE Select	ENSP00000495497.1:p.Gly194=
ENST00000359524.7:c.540C>A	ENSP00000352514.5:p.Gly180=
ENST00000371432.7:c.582C>A	ENSP00000360486.4:p.Gly194=
ENST00000371436.10:c.582C>A	ENSP00000360491.6:p.Gly194=
ENST00000371438.5:c.582C>A	ENSP00000360493.1:p.Gly194=
ENST00000465038.6:c.582C>A	ENSP00000420707.2:p.Gly194=
ENST00000478660.6:c.540C>A	ENSP00000460188.1:p.Gly180=
ENST00000483377.5:c.*103C>A	ENSP00000461357.1:n.*103C>A
ENST00000576263.5:c.582C>A	ENSP00000458178.1:p.Gly194=
ENST00000625924.1:c.540C>A	ENSP00000485863.1:p.Gly180=
NM_001015051.3:c.582C>A	NP_001015051.3:p.Gly194=
NM_001024630.3:c.582C>A	NP_001019801.3:p.Gly194=
NM_001278478.1:c.540C>A	NP_001265407.1:p.Gly180=
XM_006715232.1:c.540C>A	XP_006715295.1:p.Gly180=
XM_011514960.1:c.786C>A	XP_011513262.1:p.Gly262=
XM_011514961.1:c.786C>A	XP_011513263.1:p.Gly262=
XM_011514962.1:c.786C>A	XP_011513264.1:p.Gly262=
XM_011514963.1:c.786C>A	XP_011513265.1:p.Gly262=
XM_011514964.1:c.786C>A	XP_011513266.1:p.Gly262=
XM_011514965.1:c.786C>A	XP_011513267.1:p.Gly262=
XM_011514966.1:c.114C>A	XP_011513268.1:p.Gly38=
XM_011514967.1:c.786C>A	XP_011513269.1:p.Gly262=
XM_011514968.1:c.786C>A	XP_011513270.1:p.Gly262=
XR_926323.1:n.1298C>A
NM_001024630.4:c.582C>A MANE Select	NP_001019801.3:p.Gly194=
NM_001278478.2:c.540C>A	NP_001265407.1:p.Gly180=
NM_001369405.1:c.540C>A	NP_001356334.1:p.Gly180=
NM_001015051.4:c.582C>A	NP_001015051.3:p.Gly194=