Canonical Allele Identifier: CA138433895
Community Standard Title: NM_001024630.4(RUNX2):c.59-242G>T
Gene: RUNX2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.45422351G>T , CM000668.2:g.45422351G>T GRCh38
NC_000006.11:g.45390088G>T , CM000668.1:g.45390088G>T GRCh37
NC_000006.10:g.45498066G>T NCBI36
NG_008020.1:g.99035G>T
NG_008020.2:g.99035G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001024630.4:c.59-242G>T MANE Select NP_001019801.3:n.59-242G>T
ENST00000647337.2:c.59-242G>T MANE Select ENSP00000495497.1:n.59-242G>T
NM_001015051.3:c.59-242G>T NP_001015051.3:n.59-242G>T
NM_001015051.4:c.59-242G>T NP_001015051.3:n.59-242G>T
NM_001024630.3:c.59-242G>T NP_001019801.3:n.59-242G>T
NM_001278478.2:c.-226G>T NP_001265407.1:n.-226G>T
NM_001369405.1:c.-226G>T NP_001356334.1:n.-226G>T
ENST00000371432.7:c.59-242G>T ENSP00000360486.4:n.59-242G>T
ENST00000371436.10:c.59-242G>T ENSP00000360491.6:n.59-242G>T
ENST00000371438.5:c.59-242G>T ENSP00000360493.1:n.59-242G>T
ENST00000465038.6:c.59-242G>T ENSP00000420707.2:n.59-242G>T
ENST00000478660.6:c.-226G>T ENSP00000460188.1:n.-226G>T
ENST00000483377.5:c.59-9512G>T ENSP00000461357.1:n.59-9512G>T
ENST00000576263.5:c.59-242G>T ENSP00000458178.1:n.59-242G>T
ENST00000646519.1:c.-226G>T ENSP00000496517.1:n.-226G>T
XM_011514960.1:c.263-242G>T XP_011513262.1:n.263-242G>T
XM_011514961.1:c.263-242G>T XP_011513263.1:n.263-242G>T
XM_011514962.1:c.263-242G>T XP_011513264.1:n.263-242G>T
XM_011514963.1:c.263-242G>T XP_011513265.1:n.263-242G>T
XM_011514964.1:c.263-242G>T XP_011513266.1:n.263-242G>T
XM_011514965.1:c.263-242G>T XP_011513267.1:n.263-242G>T
XM_011514967.1:c.263-242G>T XP_011513269.1:n.263-242G>T
XM_011514968.1:c.263-242G>T XP_011513270.1:n.263-242G>T
XR_926323.1:n.775-242G>T