Canonical Allele Identifier: CA2034476674
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977991_47977992delinsAG , CM000674.2:g.47977991_47977992delinsAG GRCh38
NC_000012.11:g.48371774_48371775delinsAG , CM000674.1:g.48371774_48371775delinsAG GRCh37
NC_000012.10:g.46658041_46658042delinsAG NCBI36
NG_008072.1:g.31511_31512delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2904+18_2904+19delinsCT ENSP00000338213.6:n.2904+18_2904+19delinsCT
ENST00000380518.8:c.3111+18_3111+19delinsCT MANE Select ENSP00000369889.3:n.3111+18_3111+19delinsCT
ENST00000337299.6:c.2904+18_2904+19delinsCT ENSP00000338213.6:n.2904+18_2904+19delinsCT
ENST00000380518.7:c.3111+18_3111+19delinsCT ENSP00000369889.3:n.3111+18_3111+19delinsCT
ENST00000493991.5:n.2197+18_2197+19delinsCT
NM_001844.4:c.3111+18_3111+19delinsCT NP_001835.3:n.3111+18_3111+19delinsCT
NM_033150.2:c.2904+18_2904+19delinsCT NP_149162.2:n.2904+18_2904+19delinsCT
XM_006719242.2:c.3255+18_3255+19delinsCT XP_006719305.2:n.3255+18_3255+19delinsCT
XM_011537928.1:c.3255+18_3255+19delinsCT XP_011536230.1:n.3255+18_3255+19delinsCT
XM_011537929.1:c.3255+18_3255+19delinsCT XP_011536231.1:n.3255+18_3255+19delinsCT
XM_011537930.1:c.3255+18_3255+19delinsCT XP_011536232.1:n.3255+18_3255+19delinsCT
XM_011537931.1:c.3255+18_3255+19delinsCT XP_011536233.1:n.3255+18_3255+19delinsCT
XM_011537932.1:c.3255+18_3255+19delinsCT XP_011536234.1:n.3255+18_3255+19delinsCT
XM_011537933.1:c.3255+18_3255+19delinsCT XP_011536235.1:n.3255+18_3255+19delinsCT
XM_011537934.1:c.3252+18_3252+19delinsCT XP_011536236.1:n.3252+18_3252+19delinsCT
XM_011537935.1:c.2199+18_2199+19delinsCT XP_011536237.1:n.2199+18_2199+19delinsCT
XM_017018828.1:c.3255+18_3255+19delinsCT XP_016874317.1:n.3255+18_3255+19delinsCT
XM_017018829.1:c.3252+18_3252+19delinsCT XP_016874318.1:n.3252+18_3252+19delinsCT
XM_017018830.1:c.3045+18_3045+19delinsCT XP_016874319.1:n.3045+18_3045+19delinsCT
XM_017018831.2:c.2565+18_2565+19delinsCT XP_016874320.1:n.2565+18_2565+19delinsCT
NM_001844.5:c.3111+18_3111+19delinsCT MANE Select NP_001835.3:n.3111+18_3111+19delinsCT
NM_033150.3:c.2904+18_2904+19delinsCT NP_149162.2:n.2904+18_2904+19delinsCT