Canonical Allele Identifier: CA3836619

Gene: RUNX2

Linked Data

• dbSNP Id: rs554124503
• ExAC: 6:45514858 G / C
• gnomAD v2: 6-45514858-G-C
• gnomAD v3: 6-45547121-G-C
• gnomAD v4: 6-45547121-G-C
• MyVariant Identifiers: chr6:g.45514858G>C (hg19) ; chr6:g.45547121G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45547121G>C , CM000668.2:g.45547121G>C	GRCh38
NC_000006.11:g.45514858G>C , CM000668.1:g.45514858G>C	GRCh37
NC_000006.10:g.45622836G>C	NCBI36
NG_008020.1:g.223805G>C
NG_008020.2:g.223805G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646519.1:c.*539G>C	ENSP00000496517.1:n.*539G>C
ENST00000647337.2:c.1382G>C MANE Select	ENSP00000495497.1:p.Gly461Ala
ENST00000359524.7:c.1340G>C	ENSP00000352514.5:p.Gly447Ala
ENST00000371432.7:c.1316G>C	ENSP00000360486.4:p.Gly439Ala
ENST00000371436.10:c.1316G>C	ENSP00000360491.6:p.Gly439Ala
ENST00000371438.5:c.1382G>C	ENSP00000360493.1:p.Gly461Ala
ENST00000465038.6:c.1382G>C	ENSP00000420707.2:p.Gly461Ala
ENST00000478660.6:c.*178+33468G>C	ENSP00000460188.1:n.*178+33468G>C
ENST00000483377.5:c.*903G>C	ENSP00000461357.1:n.*903G>C
ENST00000576263.5:c.1021+34714G>C	ENSP00000458178.1:n.1021+34714G>C
ENST00000625924.1:c.1274G>C	ENSP00000485863.1:p.Gly425Ala
NM_001015051.3:c.1316G>C	NP_001015051.3:p.Gly439Ala
NM_001024630.3:c.1382G>C	NP_001019801.3:p.Gly461Ala
NM_001278478.1:c.1274G>C	NP_001265407.1:p.Gly425Ala
XM_006715232.1:c.1166G>C	XP_006715295.1:p.Gly389Ala
XM_011514960.1:c.1225+34714G>C	XP_011513262.1:n.1225+34714G>C
XM_011514961.1:c.1586G>C	XP_011513263.1:p.Gly529Ala
XM_011514962.1:c.1520G>C	XP_011513264.1:p.Gly507Ala
XM_011514963.1:c.1051+34714G>C	XP_011513265.1:n.1051+34714G>C
XM_011514964.1:c.1435+151G>C	XP_011513266.1:n.1435+151G>C
XM_011514966.1:c.553+34714G>C	XP_011513268.1:n.553+34714G>C
NM_001024630.4:c.1382G>C MANE Select	NP_001019801.3:p.Gly461Ala
NM_001278478.2:c.1274G>C	NP_001265407.1:p.Gly425Ala
NM_001369405.1:c.1340G>C	NP_001356334.1:p.Gly447Ala
NM_001015051.4:c.1316G>C	NP_001015051.3:p.Gly439Ala