Canonical Allele Identifier: CA281738

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 17351
• ClinVar RCV Id: RCV000018894
• dbSNP Id: rs1555164872
• MyVariant Identifiers: chr12:g.48369744_48370134del (hg19) ; chr12:g.47975961_47976351del (hg38)
• PubMed: PMID:2543071

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975961_47976351del , CM000674.2:g.47975961_47976351del	GRCh38
NC_000012.11:g.48369744_48370134del , CM000674.1:g.48369744_48370134del	GRCh37
NC_000012.10:g.46656011_46656401del	NCBI36
NG_008072.1:g.33152_33542del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3282+163_3390+2del
ENST00000380518.8:c.3489+163_3597+2del
ENST00000337299.6:c.3282+163_3390+2del
ENST00000380518.7:c.3489+163_3597+2del
ENST00000493991.5:n.2575+163_2683+2del
ENST00000546974.1:n.342+163_450+2del
NM_001844.4:c.3489+163_3597+2del
NM_033150.2:c.3282+163_3390+2del
XM_006719242.2:c.3633+163_3741+2del
XM_011537928.1:c.3633+163_3741+2del
XM_011537929.1:c.3633+163_3741+2del
XM_011537930.1:c.3633+163_3741+2del
XM_011537931.1:c.3633+163_3741+2del
XM_011537932.1:c.3633+163_3741+2del
XM_011537933.1:c.3633+163_3741+2del
XM_011537934.1:c.3630+163_3738+2del
XM_011537935.1:c.2577+163_2685+2del
XM_017018828.1:c.3633+163_3741+2del
XM_017018829.1:c.3630+163_3738+2del
XM_017018830.1:c.3423+163_3531+2del
XM_017018831.2:c.2943+163_3051+2del
NM_001844.5:c.3489+163_3597+2del
NM_033150.3:c.3282+163_3390+2del