Canonical Allele Identifier: CA1088524950

Gene: RUNX2

Linked Data

• dbSNP Id: rs1798729109
• gnomAD v3: 6-45437876-C-T
• gnomAD v4: 6-45437876-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45437876C>T , CM000668.2:g.45437876C>T	GRCh38
NC_000006.11:g.45405613C>T , CM000668.1:g.45405613C>T	GRCh37
NC_000006.10:g.45513591C>T	NCBI36
NG_008020.1:g.114560C>T
NG_008020.2:g.114560C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.539-71C>T	ENSP00000496517.1:n.539-71C>T
ENST00000647337.2:c.581-71C>T MANE Select	ENSP00000495497.1:n.581-71C>T
ENST00000359524.7:c.539-71C>T	ENSP00000352514.5:n.539-71C>T
ENST00000371432.7:c.581-71C>T	ENSP00000360486.4:n.581-71C>T
ENST00000371436.10:c.581-71C>T	ENSP00000360491.6:n.581-71C>T
ENST00000371438.5:c.581-71C>T	ENSP00000360493.1:n.581-71C>T
ENST00000465038.6:c.581-71C>T	ENSP00000420707.2:n.581-71C>T
ENST00000478660.6:c.539-71C>T	ENSP00000460188.1:n.539-71C>T
ENST00000483377.5:c.*102-71C>T	ENSP00000461357.1:n.*102-71C>T
ENST00000576263.5:c.581-71C>T	ENSP00000458178.1:n.581-71C>T
ENST00000625924.1:c.539-71C>T	ENSP00000485863.1:n.539-71C>T
NM_001015051.3:c.581-71C>T	NP_001015051.3:n.581-71C>T
NM_001024630.3:c.581-71C>T	NP_001019801.3:n.581-71C>T
NM_001278478.1:c.539-71C>T	NP_001265407.1:n.539-71C>T
XM_006715232.1:c.539-71C>T	XP_006715295.1:n.539-71C>T
XM_011514960.1:c.785-71C>T	XP_011513262.1:n.785-71C>T
XM_011514961.1:c.785-71C>T	XP_011513263.1:n.785-71C>T
XM_011514962.1:c.785-71C>T	XP_011513264.1:n.785-71C>T
XM_011514963.1:c.785-71C>T	XP_011513265.1:n.785-71C>T
XM_011514964.1:c.785-71C>T	XP_011513266.1:n.785-71C>T
XM_011514965.1:c.785-71C>T	XP_011513267.1:n.785-71C>T
XM_011514966.1:c.113-71C>T	XP_011513268.1:n.113-71C>T
XM_011514967.1:c.785-71C>T	XP_011513269.1:n.785-71C>T
XM_011514968.1:c.785-71C>T	XP_011513270.1:n.785-71C>T
XR_926323.1:n.1297-71C>T
NM_001024630.4:c.581-71C>T MANE Select	NP_001019801.3:n.581-71C>T
NM_001278478.2:c.539-71C>T	NP_001265407.1:n.539-71C>T
NM_001369405.1:c.539-71C>T	NP_001356334.1:n.539-71C>T
NM_001015051.4:c.581-71C>T	NP_001015051.3:n.581-71C>T