Canonical Allele Identifier: CA6534699

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 508961
• ClinVar RCV Id: RCV001493323
• dbSNP Id: rs758237369
• ExAC: 12:48369728 AG / A
• gnomAD v2: 12-48369728-AG-A
• gnomAD v3: 12-47975945-AG-A
• gnomAD v4: 12-47975945-AG-A
• MyVariant Identifiers: chr12:g.48369729del (hg19) ; chr12:g.47975947del (hg38) ; chr12:g.47975946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975947del , CM000674.2:g.47975947del	GRCh38
NC_000012.11:g.48369730del , CM000674.1:g.48369730del	GRCh37
NC_000012.10:g.46655997del	NCBI36
NG_008072.1:g.33557del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3390+17del	ENSP00000338213.6:n.3390+17del
ENST00000380518.8:c.3597+17del MANE Select	ENSP00000369889.3:n.3597+17del
ENST00000337299.6:c.3390+17del	ENSP00000338213.6:n.3390+17del
ENST00000380518.7:c.3597+17del	ENSP00000369889.3:n.3597+17del
ENST00000493991.5:n.2683+17del
ENST00000546974.1:n.450+17del
NM_001844.4:c.3597+17del	NP_001835.3:n.3597+17del
NM_033150.2:c.3390+17del	NP_149162.2:n.3390+17del
XM_006719242.2:c.3741+17del	XP_006719305.2:n.3741+17del
XM_011537928.1:c.3741+17del	XP_011536230.1:n.3741+17del
XM_011537929.1:c.3741+17del	XP_011536231.1:n.3741+17del
XM_011537930.1:c.3741+17del	XP_011536232.1:n.3741+17del
XM_011537931.1:c.3741+17del	XP_011536233.1:n.3741+17del
XM_011537932.1:c.3741+17del	XP_011536234.1:n.3741+17del
XM_011537933.1:c.3741+17del	XP_011536235.1:n.3741+17del
XM_011537934.1:c.3738+17del	XP_011536236.1:n.3738+17del
XM_011537935.1:c.2685+17del	XP_011536237.1:n.2685+17del
XM_017018828.1:c.3741+17del	XP_016874317.1:n.3741+17del
XM_017018829.1:c.3738+17del	XP_016874318.1:n.3738+17del
XM_017018830.1:c.3531+17del	XP_016874319.1:n.3531+17del
XM_017018831.2:c.3051+17del	XP_016874320.1:n.3051+17del
NM_001844.5:c.3597+17del MANE Select	NP_001835.3:n.3597+17del
NM_033150.3:c.3390+17del	NP_149162.2:n.3390+17del