Canonical Allele Identifier: CA363955889
Gene: RUNX2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.45480013G>A (hg19) chr6:g.45512276G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45512276G>A , CM000668.2:g.45512276G>A GRCh38
NC_000006.11:g.45480013G>A , CM000668.1:g.45480013G>A GRCh37
NC_000006.10:g.45587991G>A NCBI36
NG_008020.1:g.188960G>A
NG_008020.2:g.188960G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000646519.1:c.848G>A ENSP00000496517.1:p.Trp283Ter
ENST00000647337.2:c.890G>A MANE Select ENSP00000495497.1:p.Trp297Ter
ENST00000359524.7:c.848G>A ENSP00000352514.5:p.Trp283Ter
ENST00000371432.7:c.890G>A ENSP00000360486.4:p.Trp297Ter
ENST00000371436.10:c.890G>A ENSP00000360491.6:p.Trp297Ter
ENST00000371438.5:c.890G>A ENSP00000360493.1:p.Trp297Ter
ENST00000465038.6:c.890G>A ENSP00000420707.2:p.Trp297Ter
ENST00000478660.6:c.674G>A ENSP00000460188.1:p.Trp225Ter
ENST00000483377.5:c.*411G>A ENSP00000461357.1:n.*411G>A
ENST00000576263.5:c.890G>A ENSP00000458178.1:p.Trp297Ter
ENST00000625924.1:c.848G>A ENSP00000485863.1:p.Trp283Ter
NM_001015051.3:c.890G>A NP_001015051.3:p.Trp297Ter
NM_001024630.3:c.890G>A NP_001019801.3:p.Trp297Ter
NM_001278478.1:c.848G>A NP_001265407.1:p.Trp283Ter
XM_006715232.1:c.674G>A XP_006715295.1:p.Trp225Ter
XM_011514960.1:c.1094G>A XP_011513262.1:p.Trp365Ter
XM_011514961.1:c.1094G>A XP_011513263.1:p.Trp365Ter
XM_011514962.1:c.1094G>A XP_011513264.1:p.Trp365Ter
XM_011514963.1:c.920G>A XP_011513265.1:p.Trp307Ter
XM_011514964.1:c.1094G>A XP_011513266.1:p.Trp365Ter
XM_011514965.1:c.1094G>A XP_011513267.1:p.Trp365Ter
XM_011514966.1:c.422G>A XP_011513268.1:p.Trp141Ter
XR_926323.1:n.1688G>A
NM_001024630.4:c.890G>A MANE Select NP_001019801.3:p.Trp297Ter
NM_001278478.2:c.848G>A NP_001265407.1:p.Trp283Ter
NM_001369405.1:c.848G>A NP_001356334.1:p.Trp283Ter
NM_001015051.4:c.890G>A NP_001015051.3:p.Trp297Ter
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