Canonical Allele Identifier: CA12369575
Gene: RUNX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1164339
ClinVar RCV Id: RCV001510111
dbSNP Id: rs7771980
gnomAD v2: 6-45389289-T-C
gnomAD v3: 6-45421552-T-C
gnomAD v4: 6-45421552-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45421552T>C , CM000668.2:g.45421552T>C GRCh38
NC_000006.11:g.45389289T>C , CM000668.1:g.45389289T>C GRCh37
NC_000006.10:g.45497267T>C NCBI36
NG_008020.1:g.98236T>C
NG_008020.2:g.98236T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647337.2:c.59-1041T>C MANE Select ENSP00000495497.1:n.59-1041T>C
ENST00000371432.7:c.59-1041T>C ENSP00000360486.4:n.59-1041T>C
ENST00000371436.10:c.59-1041T>C ENSP00000360491.6:n.59-1041T>C
ENST00000371438.5:c.59-1041T>C ENSP00000360493.1:n.59-1041T>C
ENST00000465038.6:c.59-1041T>C ENSP00000420707.2:n.59-1041T>C
ENST00000483377.5:c.59-10311T>C ENSP00000461357.1:n.59-10311T>C
ENST00000576263.5:c.59-1041T>C ENSP00000458178.1:n.59-1041T>C
NM_001015051.3:c.59-1041T>C NP_001015051.3:n.59-1041T>C
NM_001024630.3:c.59-1041T>C NP_001019801.3:n.59-1041T>C
XM_011514960.1:c.263-1041T>C XP_011513262.1:n.263-1041T>C
XM_011514961.1:c.263-1041T>C XP_011513263.1:n.263-1041T>C
XM_011514962.1:c.263-1041T>C XP_011513264.1:n.263-1041T>C
XM_011514963.1:c.263-1041T>C XP_011513265.1:n.263-1041T>C
XM_011514964.1:c.263-1041T>C XP_011513266.1:n.263-1041T>C
XM_011514965.1:c.263-1041T>C XP_011513267.1:n.263-1041T>C
XM_011514967.1:c.263-1041T>C XP_011513269.1:n.263-1041T>C
XM_011514968.1:c.263-1041T>C XP_011513270.1:n.263-1041T>C
XR_926323.1:n.775-1041T>C
NM_001024630.4:c.59-1041T>C MANE Select NP_001019801.3:n.59-1041T>C
NM_001015051.4:c.59-1041T>C NP_001015051.3:n.59-1041T>C