Canonical Allele Identifier: CA1139771037
Gene: COL2A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47986353_47986354delinsAA , CM000674.2:g.47986353_47986354delinsAA GRCh38
NC_000012.11:g.48380136_48380137delinsAA , CM000674.1:g.48380136_48380137delinsAA GRCh37
NC_000012.10:g.46666403_46666404delinsAA NCBI36
NG_008072.1:g.23149_23150delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.1302_1303delinsTT ENSP00000338213.6:p.Gly435Cys
ENST00000380518.8:c.1509_1510delinsTT MANE Select ENSP00000369889.3:p.Gly504Cys
ENST00000337299.6:c.1302_1303delinsTT ENSP00000338213.6:p.Gly435Cys
ENST00000380518.7:c.1509_1510delinsTT ENSP00000369889.3:p.Gly504Cys
ENST00000493991.5:n.433_434delinsTT
NM_001844.4:c.1509_1510delinsTT NP_001835.3:p.Gly504Cys
NM_033150.2:c.1302_1303delinsTT NP_149162.2:p.Gly435Cys
XM_006719242.2:c.1653_1654delinsTT XP_006719305.2:p.Gly552Cys
XM_011537928.1:c.1653_1654delinsTT XP_011536230.1:p.Gly552Cys
XM_011537929.1:c.1653_1654delinsTT XP_011536231.1:p.Gly552Cys
XM_011537930.1:c.1653_1654delinsTT XP_011536232.1:p.Gly552Cys
XM_011537931.1:c.1653_1654delinsTT XP_011536233.1:p.Gly552Cys
XM_011537932.1:c.1653_1654delinsTT XP_011536234.1:p.Gly552Cys
XM_011537933.1:c.1653_1654delinsTT XP_011536235.1:p.Gly552Cys
XM_011537934.1:c.1650_1651delinsTT XP_011536236.1:p.Gly551Cys
XM_011537935.1:c.597_598delinsTT XP_011536237.1:p.Gly200Cys
XM_017018828.1:c.1653_1654delinsTT XP_016874317.1:p.Gly552Cys
XM_017018829.1:c.1650_1651delinsTT XP_016874318.1:p.Gly551Cys
XM_017018830.1:c.1443_1444delinsTT XP_016874319.1:p.Gly482Cys
XM_017018831.2:c.963_964delinsTT XP_016874320.1:p.Gly322Cys
NM_001844.5:c.1509_1510delinsTT MANE Select NP_001835.3:p.Gly504Cys
NM_033150.3:c.1302_1303delinsTT NP_149162.2:p.Gly435Cys
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