Canonical Allele Identifier: CA363957251

Gene: RUNX2

Linked Data

• ClinVar Variation Id: 3015674
• ClinVar RCV Id: RCV003873761
• dbSNP Id: rs1421970328
• gnomAD v2: 6-45514929-C-T
• gnomAD v4: 6-45547192-C-T
• MyVariant Identifiers: chr6:g.45514929C>T (hg19) ; chr6:g.45547192C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547192C>T , CM000668.2:g.45547192C>T	GRCh38
NC_000006.11:g.45514929C>T , CM000668.1:g.45514929C>T	GRCh37
NC_000006.10:g.45622907C>T	NCBI36
NG_008020.1:g.223876C>T
NG_008020.2:g.223876C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*610C>T	ENSP00000496517.1:n.*610C>T
ENST00000647337.2:c.1453C>T MANE Select	ENSP00000495497.1:p.Pro485Ser
ENST00000359524.7:c.1411C>T	ENSP00000352514.5:p.Pro471Ser
ENST00000371432.7:c.1387C>T	ENSP00000360486.4:p.Pro463Ser
ENST00000371436.10:c.1387C>T	ENSP00000360491.6:p.Pro463Ser
ENST00000371438.5:c.1453C>T	ENSP00000360493.1:p.Pro485Ser
ENST00000465038.6:c.1453C>T	ENSP00000420707.2:p.Pro485Ser
ENST00000478660.6:c.*178+33539C>T	ENSP00000460188.1:n.*178+33539C>T
ENST00000483377.5:c.*974C>T	ENSP00000461357.1:n.*974C>T
ENST00000576263.5:c.1021+34785C>T	ENSP00000458178.1:n.1021+34785C>T
ENST00000625924.1:c.1345C>T	ENSP00000485863.1:p.Pro449Ser
NM_001015051.3:c.1387C>T	NP_001015051.3:p.Pro463Ser
NM_001024630.3:c.1453C>T	NP_001019801.3:p.Pro485Ser
NM_001278478.1:c.1345C>T	NP_001265407.1:p.Pro449Ser
XM_006715232.1:c.1237C>T	XP_006715295.1:p.Pro413Ser
XM_011514960.1:c.1225+34785C>T	XP_011513262.1:n.1225+34785C>T
XM_011514961.1:c.1657C>T	XP_011513263.1:p.Pro553Ser
XM_011514962.1:c.1591C>T	XP_011513264.1:p.Pro531Ser
XM_011514963.1:c.1051+34785C>T	XP_011513265.1:n.1051+34785C>T
XM_011514964.1:c.1435+222C>T	XP_011513266.1:n.1435+222C>T
XM_011514966.1:c.553+34785C>T	XP_011513268.1:n.553+34785C>T
NM_001024630.4:c.1453C>T MANE Select	NP_001019801.3:p.Pro485Ser
NM_001278478.2:c.1345C>T	NP_001265407.1:p.Pro449Ser
NM_001369405.1:c.1411C>T	NP_001356334.1:p.Pro471Ser
NM_001015051.4:c.1387C>T	NP_001015051.3:p.Pro463Ser