Canonical Allele Identifier: CA915945371
Gene: COL1A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 817096
ClinVar RCV Id: RCV001008196
dbSNP Id: rs1584328014
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.94423086dup , CM000669.2:g.94423086dup GRCh38
NC_000007.13:g.94052398dup , CM000669.1:g.94052398dup GRCh37
NC_000007.12:g.93890334dup NCBI36
NG_007405.1:g.33526dup , LRG_2:g.33526dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000297268.11:c.2533dup MANE Select ENSP00000297268.6:p.Glu845GlyfsTer?
ENST00000297268.10:c.2533dup ENSP00000297268.6:p.Glu845GlyfsTer?
ENST00000481570.5:n.616dup
ENST00000497316.5:n.930dup
ENST00000620463.1:c.2527dup ENSP00000477719.1:p.Glu843GlyfsTer?
NM_000089.3:c.2533dup , LRG_2t1:c.2533dup NP_000080.2:p.Glu845GlyfsTer?
NM_000089.4:c.2533dup MANE Select NP_000080.2:p.Glu845GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'