Canonical Allele Identifier: CA658797891

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 520405
• ClinVar RCV Id: RCV000623544
• dbSNP Id: rs1555168965
• MyVariant Identifiers: chr12:g.48390327del (hg19) ; chr12:g.47996544del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47996545del , CM000674.2:g.47996545del	GRCh38
NC_000012.11:g.48390328del , CM000674.1:g.48390328del	GRCh37
NC_000012.10:g.46676595del	NCBI36
NG_008072.1:g.12959del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.402+4del	ENSP00000338213.6:n.402+4del
ENST00000380518.8:c.609+4del MANE Select	ENSP00000369889.3:n.609+4del
ENST00000337299.6:c.402+4del	ENSP00000338213.6:n.402+4del
ENST00000380518.7:c.609+4del	ENSP00000369889.3:n.609+4del
NM_001844.4:c.609+4del	NP_001835.3:n.609+4del
NM_033150.2:c.402+4del	NP_149162.2:n.402+4del
XM_006719242.2:c.753+4del	XP_006719305.2:n.753+4del
XM_011537928.1:c.753+4del	XP_011536230.1:n.753+4del
XM_011537929.1:c.753+4del	XP_011536231.1:n.753+4del
XM_011537930.1:c.753+4del	XP_011536232.1:n.753+4del
XM_011537931.1:c.753+4del	XP_011536233.1:n.753+4del
XM_011537932.1:c.753+4del	XP_011536234.1:n.753+4del
XM_011537933.1:c.753+4del	XP_011536235.1:n.753+4del
XM_011537934.1:c.750+4del	XP_011536236.1:n.750+4del
XM_017018828.1:c.753+4del	XP_016874317.1:n.753+4del
XM_017018829.1:c.750+4del	XP_016874318.1:n.750+4del
XM_017018830.1:c.543+4del	XP_016874319.1:n.543+4del
XM_017018831.2:c.63+4del	XP_016874320.1:n.63+4del
NM_001844.5:c.609+4del MANE Select	NP_001835.3:n.609+4del
NM_033150.3:c.402+4del	NP_149162.2:n.402+4del