Canonical Allele Identifier: CA645570673
Gene: COL2A1 HGNC NCBI

Linked Data

COSMIC: COSM4565491 COSM4565492
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47982886_47982887delinsAT , CM000674.2:g.47982886_47982887delinsAT GRCh38
NC_000012.11:g.48376669_48376670delinsAT , CM000674.1:g.48376669_48376670delinsAT GRCh37
NC_000012.10:g.46662936_46662937delinsAT NCBI36
NG_008072.1:g.26616_26617delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.1947_1948delinsAT ENSP00000338213.6:p.Arg650Cys
ENST00000380518.8:c.2154_2155delinsAT MANE Select ENSP00000369889.3:p.Arg719Cys
ENST00000337299.6:c.1947_1948delinsAT ENSP00000338213.6:p.Arg650Cys
ENST00000380518.7:c.2154_2155delinsAT ENSP00000369889.3:p.Arg719Cys
ENST00000483376.1:n.332_333delinsAT
ENST00000493991.5:n.1078_1079delinsAT
NM_001844.4:c.2154_2155delinsAT NP_001835.3:p.Arg719Cys
NM_033150.2:c.1947_1948delinsAT NP_149162.2:p.Arg650Cys
XM_006719242.2:c.2298_2299delinsAT XP_006719305.2:p.Arg767Cys
XM_011537928.1:c.2298_2299delinsAT XP_011536230.1:p.Arg767Cys
XM_011537929.1:c.2298_2299delinsAT XP_011536231.1:p.Arg767Cys
XM_011537930.1:c.2298_2299delinsAT XP_011536232.1:p.Arg767Cys
XM_011537931.1:c.2298_2299delinsAT XP_011536233.1:p.Arg767Cys
XM_011537932.1:c.2298_2299delinsAT XP_011536234.1:p.Arg767Cys
XM_011537933.1:c.2298_2299delinsAT XP_011536235.1:p.Arg767Cys
XM_011537934.1:c.2295_2296delinsAT XP_011536236.1:p.Arg766Cys
XM_011537935.1:c.1242_1243delinsAT XP_011536237.1:p.Arg415Cys
XM_017018828.1:c.2298_2299delinsAT XP_016874317.1:p.Arg767Cys
XM_017018829.1:c.2295_2296delinsAT XP_016874318.1:p.Arg766Cys
XM_017018830.1:c.2088_2089delinsAT XP_016874319.1:p.Arg697Cys
XM_017018831.2:c.1608_1609delinsAT XP_016874320.1:p.Arg537Cys
NM_001844.5:c.2154_2155delinsAT MANE Select NP_001835.3:p.Arg719Cys
NM_033150.3:c.1947_1948delinsAT NP_149162.2:p.Arg650Cys
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