Canonical Allele Identifier: CA138433709

Gene: RUNX2

Linked Data

• dbSNP Id: rs975279959
• gnomAD v3: 6-45421408-CTCA-C
• gnomAD v4: 6-45421408-CTCA-C
• MyVariant Identifiers: chr6:g.45389146_45389148del (hg19) ; chr6:g.45421409_45421411del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45421410_45421412del , CM000668.2:g.45421410_45421412del	GRCh38
NC_000006.11:g.45389147_45389149del , CM000668.1:g.45389147_45389149del	GRCh37
NC_000006.10:g.45497125_45497127del	NCBI36
NG_008020.1:g.98094_98096del
NG_008020.2:g.98094_98096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647337.2:c.59-1183_59-1181del MANE Select	ENSP00000495497.1:n.59-1183_59-1181del
ENST00000371432.7:c.59-1183_59-1181del	ENSP00000360486.4:n.59-1183_59-1181del
ENST00000371436.10:c.59-1183_59-1181del	ENSP00000360491.6:n.59-1183_59-1181del
ENST00000371438.5:c.59-1183_59-1181del	ENSP00000360493.1:n.59-1183_59-1181del
ENST00000465038.6:c.59-1183_59-1181del	ENSP00000420707.2:n.59-1183_59-1181del
ENST00000483377.5:c.59-10453_59-10451del	ENSP00000461357.1:n.59-10453_59-10451del
ENST00000576263.5:c.59-1183_59-1181del	ENSP00000458178.1:n.59-1183_59-1181del
NM_001015051.3:c.59-1183_59-1181del	NP_001015051.3:n.59-1183_59-1181del
NM_001024630.3:c.59-1183_59-1181del	NP_001019801.3:n.59-1183_59-1181del
XM_011514960.1:c.263-1183_263-1181del	XP_011513262.1:n.263-1183_263-1181del
XM_011514961.1:c.263-1183_263-1181del	XP_011513263.1:n.263-1183_263-1181del
XM_011514962.1:c.263-1183_263-1181del	XP_011513264.1:n.263-1183_263-1181del
XM_011514963.1:c.263-1183_263-1181del	XP_011513265.1:n.263-1183_263-1181del
XM_011514964.1:c.263-1183_263-1181del	XP_011513266.1:n.263-1183_263-1181del
XM_011514965.1:c.263-1183_263-1181del	XP_011513267.1:n.263-1183_263-1181del
XM_011514967.1:c.263-1183_263-1181del	XP_011513269.1:n.263-1183_263-1181del
XM_011514968.1:c.263-1183_263-1181del	XP_011513270.1:n.263-1183_263-1181del
XR_926323.1:n.775-1183_775-1181del
NM_001024630.4:c.59-1183_59-1181del MANE Select	NP_001019801.3:n.59-1183_59-1181del
NM_001015051.4:c.59-1183_59-1181del	NP_001015051.3:n.59-1183_59-1181del