Canonical Allele Identifier: CA567156304

Gene: RUNX2

Linked Data

• dbSNP Id: rs1302526861
• gnomAD v2: 6-45479934-AGGCTGCAATGGTTGCTATACT-A
• gnomAD v4: 6-45512197-AGGCTGCAATGGTTGCTATACT-A
• MyVariant Identifiers: chr6:g.45479935_45479955del (hg19) ; chr6:g.45512198_45512218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45512198_45512218del , CM000668.2:g.45512198_45512218del	GRCh38
NC_000006.11:g.45479935_45479955del , CM000668.1:g.45479935_45479955del	GRCh37
NC_000006.10:g.45587913_45587933del	NCBI36
NG_008020.1:g.188882_188902del
NG_008020.2:g.188882_188902del

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.818-48_818-28del	ENSP00000496517.1:n.818-48_818-28del
ENST00000647337.2:c.860-48_860-28del MANE Select	ENSP00000495497.1:n.860-48_860-28del
ENST00000359524.7:c.818-48_818-28del	ENSP00000352514.5:n.818-48_818-28del
ENST00000371432.7:c.860-48_860-28del	ENSP00000360486.4:n.860-48_860-28del
ENST00000371436.10:c.860-48_860-28del	ENSP00000360491.6:n.860-48_860-28del
ENST00000371438.5:c.860-48_860-28del	ENSP00000360493.1:n.860-48_860-28del
ENST00000465038.6:c.860-48_860-28del	ENSP00000420707.2:n.860-48_860-28del
ENST00000478660.6:c.644-48_644-28del	ENSP00000460188.1:n.644-48_644-28del
ENST00000483377.5:c.*381-48_*381-28del	ENSP00000461357.1:n.*381-48_*381-28del
ENST00000576263.5:c.860-48_860-28del	ENSP00000458178.1:n.860-48_860-28del
ENST00000625924.1:c.818-48_818-28del	ENSP00000485863.1:n.818-48_818-28del
NM_001015051.3:c.860-48_860-28del	NP_001015051.3:n.860-48_860-28del
NM_001024630.3:c.860-48_860-28del	NP_001019801.3:n.860-48_860-28del
NM_001278478.1:c.818-48_818-28del	NP_001265407.1:n.818-48_818-28del
XM_006715232.1:c.644-48_644-28del	XP_006715295.1:n.644-48_644-28del
XM_011514960.1:c.1064-48_1064-28del	XP_011513262.1:n.1064-48_1064-28del
XM_011514961.1:c.1064-48_1064-28del	XP_011513263.1:n.1064-48_1064-28del
XM_011514962.1:c.1064-48_1064-28del	XP_011513264.1:n.1064-48_1064-28del
XM_011514963.1:c.890-48_890-28del	XP_011513265.1:n.890-48_890-28del
XM_011514964.1:c.1064-48_1064-28del	XP_011513266.1:n.1064-48_1064-28del
XM_011514965.1:c.1064-48_1064-28del	XP_011513267.1:n.1064-48_1064-28del
XM_011514966.1:c.392-48_392-28del	XP_011513268.1:n.392-48_392-28del
XR_926323.1:n.1658-48_1658-28del
NM_001024630.4:c.860-48_860-28del MANE Select	NP_001019801.3:n.860-48_860-28del
NM_001278478.2:c.818-48_818-28del	NP_001265407.1:n.818-48_818-28del
NM_001369405.1:c.818-48_818-28del	NP_001356334.1:n.818-48_818-28del
NM_001015051.4:c.860-48_860-28del	NP_001015051.3:n.860-48_860-28del