Canonical Allele Identifier: CA1088514527

Gene: RUNX2

Linked Data

• dbSNP Id: rs1797575941
• gnomAD v3: 6-45396124-TAG-T
• gnomAD v4: 6-45396124-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45396126_45396127del , CM000668.2:g.45396126_45396127del	GRCh38
NC_000006.11:g.45363863_45363864del , CM000668.1:g.45363863_45363864del	GRCh37
NC_000006.10:g.45471841_45471842del	NCBI36
NG_008020.1:g.72810_72811del
NG_008020.2:g.72810_72811del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647337.2:c.59-26467_59-26466del MANE Select	ENSP00000495497.1:n.59-26467_59-26466del
ENST00000371432.7:c.59-26467_59-26466del	ENSP00000360486.4:n.59-26467_59-26466del
ENST00000371436.10:c.59-26467_59-26466del	ENSP00000360491.6:n.59-26467_59-26466del
ENST00000371438.5:c.59-26467_59-26466del	ENSP00000360493.1:n.59-26467_59-26466del
ENST00000465038.6:c.59-26467_59-26466del	ENSP00000420707.2:n.59-26467_59-26466del
ENST00000483377.5:c.59-35737_59-35736del	ENSP00000461357.1:n.59-35737_59-35736del
ENST00000576263.5:c.59-26467_59-26466del	ENSP00000458178.1:n.59-26467_59-26466del
NM_001015051.3:c.59-26467_59-26466del	NP_001015051.3:n.59-26467_59-26466del
NM_001024630.3:c.59-26467_59-26466del	NP_001019801.3:n.59-26467_59-26466del
XM_011514960.1:c.263-26467_263-26466del	XP_011513262.1:n.263-26467_263-26466del
XM_011514961.1:c.263-26467_263-26466del	XP_011513263.1:n.263-26467_263-26466del
XM_011514962.1:c.263-26467_263-26466del	XP_011513264.1:n.263-26467_263-26466del
XM_011514963.1:c.263-26467_263-26466del	XP_011513265.1:n.263-26467_263-26466del
XM_011514964.1:c.263-26467_263-26466del	XP_011513266.1:n.263-26467_263-26466del
XM_011514965.1:c.263-26467_263-26466del	XP_011513267.1:n.263-26467_263-26466del
XM_011514967.1:c.263-26467_263-26466del	XP_011513269.1:n.263-26467_263-26466del
XM_011514968.1:c.263-26467_263-26466del	XP_011513270.1:n.263-26467_263-26466del
XR_926323.1:n.775-26467_775-26466del
NM_001024630.4:c.59-26467_59-26466del MANE Select	NP_001019801.3:n.59-26467_59-26466del
NM_001015051.4:c.59-26467_59-26466del	NP_001015051.3:n.59-26467_59-26466del