Canonical Allele Identifier: CA2034476474
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977562_47977563delinsTC , CM000674.2:g.47977562_47977563delinsTC GRCh38
NC_000012.11:g.48371345_48371346delinsTC , CM000674.1:g.48371345_48371346delinsTC GRCh37
NC_000012.10:g.46657612_46657613delinsTC NCBI36
NG_008072.1:g.31940_31941delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2958+37_2958+38delinsGA ENSP00000338213.6:n.2958+37_2958+38delinsGA
ENST00000380518.8:c.3165+37_3165+38delinsGA MANE Select ENSP00000369889.3:n.3165+37_3165+38delinsGA
ENST00000337299.6:c.2958+37_2958+38delinsGA ENSP00000338213.6:n.2958+37_2958+38delinsGA
ENST00000380518.7:c.3165+37_3165+38delinsGA ENSP00000369889.3:n.3165+37_3165+38delinsGA
ENST00000493991.5:n.2251+37_2251+38delinsGA
NM_001844.4:c.3165+37_3165+38delinsGA NP_001835.3:n.3165+37_3165+38delinsGA
NM_033150.2:c.2958+37_2958+38delinsGA NP_149162.2:n.2958+37_2958+38delinsGA
XM_006719242.2:c.3309+37_3309+38delinsGA XP_006719305.2:n.3309+37_3309+38delinsGA
XM_011537928.1:c.3309+37_3309+38delinsGA XP_011536230.1:n.3309+37_3309+38delinsGA
XM_011537929.1:c.3309+37_3309+38delinsGA XP_011536231.1:n.3309+37_3309+38delinsGA
XM_011537930.1:c.3309+37_3309+38delinsGA XP_011536232.1:n.3309+37_3309+38delinsGA
XM_011537931.1:c.3309+37_3309+38delinsGA XP_011536233.1:n.3309+37_3309+38delinsGA
XM_011537932.1:c.3309+37_3309+38delinsGA XP_011536234.1:n.3309+37_3309+38delinsGA
XM_011537933.1:c.3309+37_3309+38delinsGA XP_011536235.1:n.3309+37_3309+38delinsGA
XM_011537934.1:c.3306+37_3306+38delinsGA XP_011536236.1:n.3306+37_3306+38delinsGA
XM_011537935.1:c.2253+37_2253+38delinsGA XP_011536237.1:n.2253+37_2253+38delinsGA
XM_017018828.1:c.3309+37_3309+38delinsGA XP_016874317.1:n.3309+37_3309+38delinsGA
XM_017018829.1:c.3306+37_3306+38delinsGA XP_016874318.1:n.3306+37_3306+38delinsGA
XM_017018830.1:c.3099+37_3099+38delinsGA XP_016874319.1:n.3099+37_3099+38delinsGA
XM_017018831.2:c.2619+37_2619+38delinsGA XP_016874320.1:n.2619+37_2619+38delinsGA
NM_001844.5:c.3165+37_3165+38delinsGA MANE Select NP_001835.3:n.3165+37_3165+38delinsGA
NM_033150.3:c.2958+37_2958+38delinsGA NP_149162.2:n.2958+37_2958+38delinsGA