Canonical Allele Identifier: CA2795861064
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977706_47977707insACA , CM000674.2:g.47977706_47977707insACA GRCh38
NC_000012.11:g.48371489_48371490insACA , CM000674.1:g.48371489_48371490insACA GRCh37
NC_000012.10:g.46657756_46657757insACA NCBI36
NG_008072.1:g.31796_31797insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2905-54_2905-53insTGT ENSP00000338213.6:n.2905-54_2905-53insTGT
ENST00000380518.8:c.3112-54_3112-53insTGT MANE Select ENSP00000369889.3:n.3112-54_3112-53insTGT
ENST00000337299.6:c.2905-54_2905-53insTGT ENSP00000338213.6:n.2905-54_2905-53insTGT
ENST00000380518.7:c.3112-54_3112-53insTGT ENSP00000369889.3:n.3112-54_3112-53insTGT
ENST00000493991.5:n.2198-54_2198-53insTGT
NM_001844.4:c.3112-54_3112-53insTGT NP_001835.3:n.3112-54_3112-53insTGT
NM_033150.2:c.2905-54_2905-53insTGT NP_149162.2:n.2905-54_2905-53insTGT
XM_006719242.2:c.3256-54_3256-53insTGT XP_006719305.2:n.3256-54_3256-53insTGT
XM_011537928.1:c.3256-54_3256-53insTGT XP_011536230.1:n.3256-54_3256-53insTGT
XM_011537929.1:c.3256-54_3256-53insTGT XP_011536231.1:n.3256-54_3256-53insTGT
XM_011537930.1:c.3256-54_3256-53insTGT XP_011536232.1:n.3256-54_3256-53insTGT
XM_011537931.1:c.3256-54_3256-53insTGT XP_011536233.1:n.3256-54_3256-53insTGT
XM_011537932.1:c.3256-54_3256-53insTGT XP_011536234.1:n.3256-54_3256-53insTGT
XM_011537933.1:c.3256-54_3256-53insTGT XP_011536235.1:n.3256-54_3256-53insTGT
XM_011537934.1:c.3253-54_3253-53insTGT XP_011536236.1:n.3253-54_3253-53insTGT
XM_011537935.1:c.2200-54_2200-53insTGT XP_011536237.1:n.2200-54_2200-53insTGT
XM_017018828.1:c.3256-54_3256-53insTGT XP_016874317.1:n.3256-54_3256-53insTGT
XM_017018829.1:c.3253-54_3253-53insTGT XP_016874318.1:n.3253-54_3253-53insTGT
XM_017018830.1:c.3046-54_3046-53insTGT XP_016874319.1:n.3046-54_3046-53insTGT
XM_017018831.2:c.2566-54_2566-53insTGT XP_016874320.1:n.2566-54_2566-53insTGT
NM_001844.5:c.3112-54_3112-53insTGT MANE Select NP_001835.3:n.3112-54_3112-53insTGT
NM_033150.3:c.2905-54_2905-53insTGT NP_149162.2:n.2905-54_2905-53insTGT