Canonical Allele Identifier: CA658797886

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 521694
• ClinVar RCV Id: RCV000624699
• MyVariant Identifiers: chr12:g.48377335_48380655del (hg19) ; chr12:g.47983546_47986866del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47983552_47986872del , CM000674.2:g.47983552_47986872del	GRCh38
NC_000012.11:g.48377335_48380655del , CM000674.1:g.48377335_48380655del	GRCh37
NC_000012.10:g.46663602_46666922del	NCBI36
NG_008072.1:g.22637_25957del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.1181_1789-108del
ENST00000380518.8:c.1388_1996-108del
ENST00000337299.6:c.1181_1789-108del
ENST00000380518.7:c.1388_1996-108del
ENST00000493991.5:n.312_920-108del
NM_001844.4:c.1388_1996-108del
NM_033150.2:c.1181_1789-108del
XM_006719242.2:c.1532_2140-108del
XM_011537928.1:c.1532_2140-108del
XM_011537929.1:c.1532_2140-108del
XM_011537930.1:c.1532_2140-108del
XM_011537931.1:c.1532_2140-108del
XM_011537932.1:c.1532_2140-108del
XM_011537933.1:c.1532_2140-108del
XM_011537934.1:c.1529_2137-108del
XM_011537935.1:c.476_1084-108del
XM_017018828.1:c.1532_2140-108del
XM_017018829.1:c.1529_2137-108del
XM_017018830.1:c.1322_1930-108del
XM_017018831.2:c.842_1450-108del
NM_001844.5:c.1388_1996-108del
NM_033150.3:c.1181_1789-108del