Canonical Allele Identifier: CA363957328

Gene: RUNX2

Linked Data

• MyVariant Identifiers: chr6:g.45514963C>A (hg19) ; chr6:g.45547226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547226C>A , CM000668.2:g.45547226C>A	GRCh38
NC_000006.11:g.45514963C>A , CM000668.1:g.45514963C>A	GRCh37
NC_000006.10:g.45622941C>A	NCBI36
NG_008020.1:g.223910C>A
NG_008020.2:g.223910C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*644C>A	ENSP00000496517.1:n.*644C>A
ENST00000647337.2:c.1487C>A MANE Select	ENSP00000495497.1:p.Ala496Asp
ENST00000359524.7:c.1445C>A	ENSP00000352514.5:p.Ala482Asp
ENST00000371432.7:c.1421C>A	ENSP00000360486.4:p.Ala474Asp
ENST00000371436.10:c.1421C>A	ENSP00000360491.6:p.Ala474Asp
ENST00000371438.5:c.1487C>A	ENSP00000360493.1:p.Ala496Asp
ENST00000465038.6:c.1487C>A	ENSP00000420707.2:p.Ala496Asp
ENST00000478660.6:c.*178+33573C>A	ENSP00000460188.1:n.*178+33573C>A
ENST00000576263.5:c.1021+34819C>A	ENSP00000458178.1:n.1021+34819C>A
ENST00000625924.1:c.1379C>A	ENSP00000485863.1:p.Ala460Asp
NM_001015051.3:c.1421C>A	NP_001015051.3:p.Ala474Asp
NM_001024630.3:c.1487C>A	NP_001019801.3:p.Ala496Asp
NM_001278478.1:c.1379C>A	NP_001265407.1:p.Ala460Asp
XM_006715232.1:c.1271C>A	XP_006715295.1:p.Ala424Asp
XM_011514960.1:c.1225+34819C>A	XP_011513262.1:n.1225+34819C>A
XM_011514961.1:c.1691C>A	XP_011513263.1:p.Ala564Asp
XM_011514962.1:c.1625C>A	XP_011513264.1:p.Ala542Asp
XM_011514963.1:c.1051+34819C>A	XP_011513265.1:n.1051+34819C>A
XM_011514964.1:c.1435+256C>A	XP_011513266.1:n.1435+256C>A
XM_011514966.1:c.553+34819C>A	XP_011513268.1:n.553+34819C>A
NM_001024630.4:c.1487C>A MANE Select	NP_001019801.3:p.Ala496Asp
NM_001278478.2:c.1379C>A	NP_001265407.1:p.Ala460Asp
NM_001369405.1:c.1445C>A	NP_001356334.1:p.Ala482Asp
NM_001015051.4:c.1421C>A	NP_001015051.3:p.Ala474Asp