Canonical Allele Identifier: CA363957294

Gene: RUNX2

Linked Data

• dbSNP Id: rs1802429545
• gnomAD v4: 6-45547211-A-G
• MyVariant Identifiers: chr6:g.45514948A>G (hg19) ; chr6:g.45547211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547211A>G , CM000668.2:g.45547211A>G	GRCh38
NC_000006.11:g.45514948A>G , CM000668.1:g.45514948A>G	GRCh37
NC_000006.10:g.45622926A>G	NCBI36
NG_008020.1:g.223895A>G
NG_008020.2:g.223895A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*629A>G	ENSP00000496517.1:n.*629A>G
ENST00000647337.2:c.1472A>G MANE Select	ENSP00000495497.1:p.Asn491Ser
ENST00000359524.7:c.1430A>G	ENSP00000352514.5:p.Asn477Ser
ENST00000371432.7:c.1406A>G	ENSP00000360486.4:p.Asn469Ser
ENST00000371436.10:c.1406A>G	ENSP00000360491.6:p.Asn469Ser
ENST00000371438.5:c.1472A>G	ENSP00000360493.1:p.Asn491Ser
ENST00000465038.6:c.1472A>G	ENSP00000420707.2:p.Asn491Ser
ENST00000478660.6:c.*178+33558A>G	ENSP00000460188.1:n.*178+33558A>G
ENST00000576263.5:c.1021+34804A>G	ENSP00000458178.1:n.1021+34804A>G
ENST00000625924.1:c.1364A>G	ENSP00000485863.1:p.Asn455Ser
NM_001015051.3:c.1406A>G	NP_001015051.3:p.Asn469Ser
NM_001024630.3:c.1472A>G	NP_001019801.3:p.Asn491Ser
NM_001278478.1:c.1364A>G	NP_001265407.1:p.Asn455Ser
XM_006715232.1:c.1256A>G	XP_006715295.1:p.Asn419Ser
XM_011514960.1:c.1225+34804A>G	XP_011513262.1:n.1225+34804A>G
XM_011514961.1:c.1676A>G	XP_011513263.1:p.Asn559Ser
XM_011514962.1:c.1610A>G	XP_011513264.1:p.Asn537Ser
XM_011514963.1:c.1051+34804A>G	XP_011513265.1:n.1051+34804A>G
XM_011514964.1:c.1435+241A>G	XP_011513266.1:n.1435+241A>G
XM_011514966.1:c.553+34804A>G	XP_011513268.1:n.553+34804A>G
NM_001024630.4:c.1472A>G MANE Select	NP_001019801.3:p.Asn491Ser
NM_001278478.2:c.1364A>G	NP_001265407.1:p.Asn455Ser
NM_001369405.1:c.1430A>G	NP_001356334.1:p.Asn477Ser
NM_001015051.4:c.1406A>G	NP_001015051.3:p.Asn469Ser