Canonical Allele Identifier: CA2034476466
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977551_47977552delinsAG , CM000674.2:g.47977551_47977552delinsAG GRCh38
NC_000012.11:g.48371334_48371335delinsAG , CM000674.1:g.48371334_48371335delinsAG GRCh37
NC_000012.10:g.46657601_46657602delinsAG NCBI36
NG_008072.1:g.31951_31952delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2958+48_2958+49delinsCT ENSP00000338213.6:n.2958+48_2958+49delinsCT
ENST00000380518.8:c.3165+48_3165+49delinsCT MANE Select ENSP00000369889.3:n.3165+48_3165+49delinsCT
ENST00000337299.6:c.2958+48_2958+49delinsCT ENSP00000338213.6:n.2958+48_2958+49delinsCT
ENST00000380518.7:c.3165+48_3165+49delinsCT ENSP00000369889.3:n.3165+48_3165+49delinsCT
ENST00000493991.5:n.2251+48_2251+49delinsCT
NM_001844.4:c.3165+48_3165+49delinsCT NP_001835.3:n.3165+48_3165+49delinsCT
NM_033150.2:c.2958+48_2958+49delinsCT NP_149162.2:n.2958+48_2958+49delinsCT
XM_006719242.2:c.3309+48_3309+49delinsCT XP_006719305.2:n.3309+48_3309+49delinsCT
XM_011537928.1:c.3309+48_3309+49delinsCT XP_011536230.1:n.3309+48_3309+49delinsCT
XM_011537929.1:c.3309+48_3309+49delinsCT XP_011536231.1:n.3309+48_3309+49delinsCT
XM_011537930.1:c.3309+48_3309+49delinsCT XP_011536232.1:n.3309+48_3309+49delinsCT
XM_011537931.1:c.3309+48_3309+49delinsCT XP_011536233.1:n.3309+48_3309+49delinsCT
XM_011537932.1:c.3309+48_3309+49delinsCT XP_011536234.1:n.3309+48_3309+49delinsCT
XM_011537933.1:c.3309+48_3309+49delinsCT XP_011536235.1:n.3309+48_3309+49delinsCT
XM_011537934.1:c.3306+48_3306+49delinsCT XP_011536236.1:n.3306+48_3306+49delinsCT
XM_011537935.1:c.2253+48_2253+49delinsCT XP_011536237.1:n.2253+48_2253+49delinsCT
XM_017018828.1:c.3309+48_3309+49delinsCT XP_016874317.1:n.3309+48_3309+49delinsCT
XM_017018829.1:c.3306+48_3306+49delinsCT XP_016874318.1:n.3306+48_3306+49delinsCT
XM_017018830.1:c.3099+48_3099+49delinsCT XP_016874319.1:n.3099+48_3099+49delinsCT
XM_017018831.2:c.2619+48_2619+49delinsCT XP_016874320.1:n.2619+48_2619+49delinsCT
NM_001844.5:c.3165+48_3165+49delinsCT MANE Select NP_001835.3:n.3165+48_3165+49delinsCT
NM_033150.3:c.2958+48_2958+49delinsCT NP_149162.2:n.2958+48_2958+49delinsCT