Canonical Allele Identifier: CA2697559177

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2756783
• ClinVar RCV Id: RCV003566962

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975606del , CM000674.2:g.47975606del	GRCh38
NC_000012.11:g.48369389del , CM000674.1:g.48369389del	GRCh37
NC_000012.10:g.46655656del	NCBI36
NG_008072.1:g.33899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3392del
ENST00000380518.8:c.3599del
ENST00000337299.6:c.3392del
ENST00000380518.7:c.3599del
ENST00000493991.5:n.2685del
ENST00000546974.1:n.452del
NM_001844.4:c.3599del
NM_033150.2:c.3392del
XM_006719242.2:c.3743del
XM_011537928.1:c.3743del
XM_011537929.1:c.3743del
XM_011537930.1:c.3743del
XM_011537931.1:c.3743del
XM_011537932.1:c.3743del
XM_011537933.1:c.3743del
XM_011537934.1:c.3740del
XM_011537935.1:c.2687del
XM_017018828.1:c.3743del
XM_017018829.1:c.3740del
XM_017018830.1:c.3533del
XM_017018831.2:c.3053del
NM_001844.5:c.3599del
NM_033150.3:c.3392del