Canonical Allele Identifier: CA2795861699

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978463_47978464insCAG , CM000674.2:g.47978463_47978464insCAG	GRCh38
NC_000012.11:g.48372246_48372247insCAG , CM000674.1:g.48372246_48372247insCAG	GRCh37
NC_000012.10:g.46658513_46658514insCAG	NCBI36
NG_008072.1:g.31039_31040insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2689-66_2689-65insCTG	ENSP00000338213.6:n.2689-66_2689-65insCTG
ENST00000380518.8:c.2896-66_2896-65insCTG MANE Select	ENSP00000369889.3:n.2896-66_2896-65insCTG
ENST00000337299.6:c.2689-66_2689-65insCTG	ENSP00000338213.6:n.2689-66_2689-65insCTG
ENST00000380518.7:c.2896-66_2896-65insCTG	ENSP00000369889.3:n.2896-66_2896-65insCTG
ENST00000493991.5:n.1982-66_1982-65insCTG
NM_001844.4:c.2896-66_2896-65insCTG	NP_001835.3:n.2896-66_2896-65insCTG
NM_033150.2:c.2689-66_2689-65insCTG	NP_149162.2:n.2689-66_2689-65insCTG
XM_006719242.2:c.3040-66_3040-65insCTG	XP_006719305.2:n.3040-66_3040-65insCTG
XM_011537928.1:c.3040-66_3040-65insCTG	XP_011536230.1:n.3040-66_3040-65insCTG
XM_011537929.1:c.3040-66_3040-65insCTG	XP_011536231.1:n.3040-66_3040-65insCTG
XM_011537930.1:c.3040-66_3040-65insCTG	XP_011536232.1:n.3040-66_3040-65insCTG
XM_011537931.1:c.3040-66_3040-65insCTG	XP_011536233.1:n.3040-66_3040-65insCTG
XM_011537932.1:c.3040-66_3040-65insCTG	XP_011536234.1:n.3040-66_3040-65insCTG
XM_011537933.1:c.3040-66_3040-65insCTG	XP_011536235.1:n.3040-66_3040-65insCTG
XM_011537934.1:c.3037-66_3037-65insCTG	XP_011536236.1:n.3037-66_3037-65insCTG
XM_011537935.1:c.1984-66_1984-65insCTG	XP_011536237.1:n.1984-66_1984-65insCTG
XM_017018828.1:c.3040-66_3040-65insCTG	XP_016874317.1:n.3040-66_3040-65insCTG
XM_017018829.1:c.3037-66_3037-65insCTG	XP_016874318.1:n.3037-66_3037-65insCTG
XM_017018830.1:c.2830-66_2830-65insCTG	XP_016874319.1:n.2830-66_2830-65insCTG
XM_017018831.2:c.2350-66_2350-65insCTG	XP_016874320.1:n.2350-66_2350-65insCTG
NM_001844.5:c.2896-66_2896-65insCTG MANE Select	NP_001835.3:n.2896-66_2896-65insCTG
NM_033150.3:c.2689-66_2689-65insCTG	NP_149162.2:n.2689-66_2689-65insCTG