Canonical Allele Identifier: CA2034476437

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977482_47977485delinsCAGA , CM000674.2:g.47977482_47977485delinsCAGA	GRCh38
NC_000012.11:g.48371265_48371268delinsCAGA , CM000674.1:g.48371265_48371268delinsCAGA	GRCh37
NC_000012.10:g.46657532_46657535delinsCAGA	NCBI36
NG_008072.1:g.32018_32021delinsTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2959-58_2959-55delinsTCTG	ENSP00000338213.6:n.2959-58_2959-55delinsTCTG
ENST00000380518.8:c.3166-58_3166-55delinsTCTG MANE Select	ENSP00000369889.3:n.3166-58_3166-55delinsTCTG
ENST00000337299.6:c.2959-58_2959-55delinsTCTG	ENSP00000338213.6:n.2959-58_2959-55delinsTCTG
ENST00000380518.7:c.3166-58_3166-55delinsTCTG	ENSP00000369889.3:n.3166-58_3166-55delinsTCTG
ENST00000493991.5:n.2252-58_2252-55delinsTCTG
NM_001844.4:c.3166-58_3166-55delinsTCTG	NP_001835.3:n.3166-58_3166-55delinsTCTG
NM_033150.2:c.2959-58_2959-55delinsTCTG	NP_149162.2:n.2959-58_2959-55delinsTCTG
XM_006719242.2:c.3310-58_3310-55delinsTCTG	XP_006719305.2:n.3310-58_3310-55delinsTCTG
XM_011537928.1:c.3310-58_3310-55delinsTCTG	XP_011536230.1:n.3310-58_3310-55delinsTCTG
XM_011537929.1:c.3310-58_3310-55delinsTCTG	XP_011536231.1:n.3310-58_3310-55delinsTCTG
XM_011537930.1:c.3310-58_3310-55delinsTCTG	XP_011536232.1:n.3310-58_3310-55delinsTCTG
XM_011537931.1:c.3310-58_3310-55delinsTCTG	XP_011536233.1:n.3310-58_3310-55delinsTCTG
XM_011537932.1:c.3310-58_3310-55delinsTCTG	XP_011536234.1:n.3310-58_3310-55delinsTCTG
XM_011537933.1:c.3310-58_3310-55delinsTCTG	XP_011536235.1:n.3310-58_3310-55delinsTCTG
XM_011537934.1:c.3307-58_3307-55delinsTCTG	XP_011536236.1:n.3307-58_3307-55delinsTCTG
XM_011537935.1:c.2254-58_2254-55delinsTCTG	XP_011536237.1:n.2254-58_2254-55delinsTCTG
XM_017018828.1:c.3310-58_3310-55delinsTCTG	XP_016874317.1:n.3310-58_3310-55delinsTCTG
XM_017018829.1:c.3307-58_3307-55delinsTCTG	XP_016874318.1:n.3307-58_3307-55delinsTCTG
XM_017018830.1:c.3100-58_3100-55delinsTCTG	XP_016874319.1:n.3100-58_3100-55delinsTCTG
XM_017018831.2:c.2620-58_2620-55delinsTCTG	XP_016874320.1:n.2620-58_2620-55delinsTCTG
NM_001844.5:c.3166-58_3166-55delinsTCTG MANE Select	NP_001835.3:n.3166-58_3166-55delinsTCTG
NM_033150.3:c.2959-58_2959-55delinsTCTG	NP_149162.2:n.2959-58_2959-55delinsTCTG