Canonical Allele Identifier: CA363957316

Gene: RUNX2

Linked Data

• MyVariant Identifiers: chr6:g.45514957T>C (hg19) ; chr6:g.45547220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547220T>C , CM000668.2:g.45547220T>C	GRCh38
NC_000006.11:g.45514957T>C , CM000668.1:g.45514957T>C	GRCh37
NC_000006.10:g.45622935T>C	NCBI36
NG_008020.1:g.223904T>C
NG_008020.2:g.223904T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.*638T>C	ENSP00000496517.1:n.*638T>C
ENST00000647337.2:c.1481T>C MANE Select	ENSP00000495497.1:p.Val494Ala
ENST00000359524.7:c.1439T>C	ENSP00000352514.5:p.Val480Ala
ENST00000371432.7:c.1415T>C	ENSP00000360486.4:p.Val472Ala
ENST00000371436.10:c.1415T>C	ENSP00000360491.6:p.Val472Ala
ENST00000371438.5:c.1481T>C	ENSP00000360493.1:p.Val494Ala
ENST00000465038.6:c.1481T>C	ENSP00000420707.2:p.Val494Ala
ENST00000478660.6:c.*178+33567T>C	ENSP00000460188.1:n.*178+33567T>C
ENST00000576263.5:c.1021+34813T>C	ENSP00000458178.1:n.1021+34813T>C
ENST00000625924.1:c.1373T>C	ENSP00000485863.1:p.Val458Ala
NM_001015051.3:c.1415T>C	NP_001015051.3:p.Val472Ala
NM_001024630.3:c.1481T>C	NP_001019801.3:p.Val494Ala
NM_001278478.1:c.1373T>C	NP_001265407.1:p.Val458Ala
XM_006715232.1:c.1265T>C	XP_006715295.1:p.Val422Ala
XM_011514960.1:c.1225+34813T>C	XP_011513262.1:n.1225+34813T>C
XM_011514961.1:c.1685T>C	XP_011513263.1:p.Val562Ala
XM_011514962.1:c.1619T>C	XP_011513264.1:p.Val540Ala
XM_011514963.1:c.1051+34813T>C	XP_011513265.1:n.1051+34813T>C
XM_011514964.1:c.1435+250T>C	XP_011513266.1:n.1435+250T>C
XM_011514966.1:c.553+34813T>C	XP_011513268.1:n.553+34813T>C
NM_001024630.4:c.1481T>C MANE Select	NP_001019801.3:p.Val494Ala
NM_001278478.2:c.1373T>C	NP_001265407.1:p.Val458Ala
NM_001369405.1:c.1439T>C	NP_001356334.1:p.Val480Ala
NM_001015051.4:c.1415T>C	NP_001015051.3:p.Val472Ala