Canonical Allele Identifier: CA280140
Gene: RUNX2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 9305
ClinVar RCV Id: RCV000009889
dbSNP Id: rs104893994

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45547304G>C , CM000668.2:g.45547304G>C GRCh38
NC_000006.11:g.45515041G>C , CM000668.1:g.45515041G>C GRCh37
NC_000006.10:g.45623019G>C NCBI36
NG_008020.1:g.223988G>C

Transcript Alleles

HGVS Amino-acid change
NM_001015051.3:c.1499G>C VV NP_001015051.3:p.Ter500Ser
NM_001024630.3:c.1565G>C VV NP_001019801.3:p.Ter522Ser
NM_001278478.1:n.1457G>C VV NP_001265407.1:p.Ter486Ser
XM_006715232.1:c.1349G>C XP_006715295.1:p.Ter450Ser
XM_011514960.1:c.1225+34897G>C XP_011513262.1:p.=
XM_011514961.1:c.1769G>C XP_011513263.1:p.Ter590Ser
XM_011514962.1:c.1703G>C XP_011513264.1:p.Ter568Ser
XM_011514963.1:c.1051+34897G>C XP_011513265.1:p.=
XM_011514964.1:c.1435+334G>C XP_011513266.1:p.=
XM_011514966.1:c.553+34897G>C XP_011513268.1:p.=
ENST00000359524.7:c.1523G>C ENSP00000352514.5:p.Ter508Ser
ENST00000371432.7:c.1499G>C ENSP00000360486.4:p.Ter500Ser
ENST00000371436.10:n.1499G>C ENSP00000360491.6:p.Ter500Ser
ENST00000371438.5:c.1565G>C ENSP00000360493.1:p.Ter522Ser
ENST00000465038.6:c.1565G>C ENSP00000420707.2:p.Ter522Ser
ENST00000478660.6:c.*178+33651G>C ENSP00000460188.1:p.=
ENST00000576263.5:n.1021+34897G>C ENSP00000458178.1:p.=
ENST00000625924.1:n.1457G>C ENSP00000485863.1:p.Ter486Ser