Canonical Allele Identifier: CA138453314

Gene: RUNX2

Linked Data

• dbSNP Id: rs201760520
• gnomAD v2: 6-45479941-A-C
• gnomAD v3: 6-45512204-A-C
• gnomAD v4: 6-45512204-A-C
• MyVariant Identifiers: chr6:g.45479941A>C (hg19) ; chr6:g.45512204A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.45512204A>C , CM000668.2:g.45512204A>C	GRCh38
NC_000006.11:g.45479941A>C , CM000668.1:g.45479941A>C	GRCh37
NC_000006.10:g.45587919A>C	NCBI36
NG_008020.1:g.188888A>C
NG_008020.2:g.188888A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000646519.1:c.818-42A>C	ENSP00000496517.1:n.818-42A>C
ENST00000647337.2:c.860-42A>C MANE Select	ENSP00000495497.1:n.860-42A>C
ENST00000359524.7:c.818-42A>C	ENSP00000352514.5:n.818-42A>C
ENST00000371432.7:c.860-42A>C	ENSP00000360486.4:n.860-42A>C
ENST00000371436.10:c.860-42A>C	ENSP00000360491.6:n.860-42A>C
ENST00000371438.5:c.860-42A>C	ENSP00000360493.1:n.860-42A>C
ENST00000465038.6:c.860-42A>C	ENSP00000420707.2:n.860-42A>C
ENST00000478660.6:c.644-42A>C	ENSP00000460188.1:n.644-42A>C
ENST00000483377.5:c.*381-42A>C	ENSP00000461357.1:n.*381-42A>C
ENST00000576263.5:c.860-42A>C	ENSP00000458178.1:n.860-42A>C
ENST00000625924.1:c.818-42A>C	ENSP00000485863.1:n.818-42A>C
NM_001015051.3:c.860-42A>C	NP_001015051.3:n.860-42A>C
NM_001024630.3:c.860-42A>C	NP_001019801.3:n.860-42A>C
NM_001278478.1:c.818-42A>C	NP_001265407.1:n.818-42A>C
XM_006715232.1:c.644-42A>C	XP_006715295.1:n.644-42A>C
XM_011514960.1:c.1064-42A>C	XP_011513262.1:n.1064-42A>C
XM_011514961.1:c.1064-42A>C	XP_011513263.1:n.1064-42A>C
XM_011514962.1:c.1064-42A>C	XP_011513264.1:n.1064-42A>C
XM_011514963.1:c.890-42A>C	XP_011513265.1:n.890-42A>C
XM_011514964.1:c.1064-42A>C	XP_011513266.1:n.1064-42A>C
XM_011514965.1:c.1064-42A>C	XP_011513267.1:n.1064-42A>C
XM_011514966.1:c.392-42A>C	XP_011513268.1:n.392-42A>C
XR_926323.1:n.1658-42A>C
NM_001024630.4:c.860-42A>C MANE Select	NP_001019801.3:n.860-42A>C
NM_001278478.2:c.818-42A>C	NP_001265407.1:n.818-42A>C
NM_001369405.1:c.818-42A>C	NP_001356334.1:n.818-42A>C
NM_001015051.4:c.860-42A>C	NP_001015051.3:n.860-42A>C