Canonical Allele Identifier: CA138427227
Gene: RUNX2 HGNC NCBI

Linked Data

dbSNP Id: rs139441635
gnomAD v2: 6-45358072-G-A
gnomAD v3: 6-45390335-G-A
gnomAD v4: 6-45390335-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45390335G>A , CM000668.2:g.45390335G>A GRCh38
NC_000006.11:g.45358072G>A , CM000668.1:g.45358072G>A GRCh37
NC_000006.10:g.45466050G>A NCBI36
NG_008020.1:g.67019G>A
NG_008020.2:g.67019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647337.2:c.59-32258G>A MANE Select ENSP00000495497.1:n.59-32258G>A
ENST00000371432.7:c.59-32258G>A ENSP00000360486.4:n.59-32258G>A
ENST00000371436.10:c.59-32258G>A ENSP00000360491.6:n.59-32258G>A
ENST00000371438.5:c.59-32258G>A ENSP00000360493.1:n.59-32258G>A
ENST00000465038.6:c.59-32258G>A ENSP00000420707.2:n.59-32258G>A
ENST00000483377.5:c.59-41528G>A ENSP00000461357.1:n.59-41528G>A
ENST00000576263.5:c.59-32258G>A ENSP00000458178.1:n.59-32258G>A
NM_001015051.3:c.59-32258G>A NP_001015051.3:n.59-32258G>A
NM_001024630.3:c.59-32258G>A NP_001019801.3:n.59-32258G>A
XM_011514960.1:c.263-32258G>A XP_011513262.1:n.263-32258G>A
XM_011514961.1:c.263-32258G>A XP_011513263.1:n.263-32258G>A
XM_011514962.1:c.263-32258G>A XP_011513264.1:n.263-32258G>A
XM_011514963.1:c.263-32258G>A XP_011513265.1:n.263-32258G>A
XM_011514964.1:c.263-32258G>A XP_011513266.1:n.263-32258G>A
XM_011514965.1:c.263-32258G>A XP_011513267.1:n.263-32258G>A
XM_011514967.1:c.263-32258G>A XP_011513269.1:n.263-32258G>A
XM_011514968.1:c.263-32258G>A XP_011513270.1:n.263-32258G>A
XR_926323.1:n.775-32258G>A
NM_001024630.4:c.59-32258G>A MANE Select NP_001019801.3:n.59-32258G>A
NM_001015051.4:c.59-32258G>A NP_001015051.3:n.59-32258G>A