Canonical Allele Identifier: CA2795864980
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47982727_47982728insGAT , CM000674.2:g.47982727_47982728insGAT GRCh38
NC_000012.11:g.48376510_48376511insGAT , CM000674.1:g.48376510_48376511insGAT GRCh37
NC_000012.10:g.46662777_46662778insGAT NCBI36
NG_008072.1:g.26775_26776insATC

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.1987-119_1987-118insATC ENSP00000338213.6:n.1987-119_1987-118insATC
ENST00000380518.8:c.2194-119_2194-118insATC MANE Select ENSP00000369889.3:n.2194-119_2194-118insATC
ENST00000337299.6:c.1987-119_1987-118insATC ENSP00000338213.6:n.1987-119_1987-118insATC
ENST00000380518.7:c.2194-119_2194-118insATC ENSP00000369889.3:n.2194-119_2194-118insATC
ENST00000483376.1:n.372-119_372-118insATC
ENST00000493991.5:n.1118-119_1118-118insATC
NM_001844.4:c.2194-119_2194-118insATC NP_001835.3:n.2194-119_2194-118insATC
NM_033150.2:c.1987-119_1987-118insATC NP_149162.2:n.1987-119_1987-118insATC
XM_006719242.2:c.2338-119_2338-118insATC XP_006719305.2:n.2338-119_2338-118insATC
XM_011537928.1:c.2338-119_2338-118insATC XP_011536230.1:n.2338-119_2338-118insATC
XM_011537929.1:c.2338-119_2338-118insATC XP_011536231.1:n.2338-119_2338-118insATC
XM_011537930.1:c.2338-119_2338-118insATC XP_011536232.1:n.2338-119_2338-118insATC
XM_011537931.1:c.2338-119_2338-118insATC XP_011536233.1:n.2338-119_2338-118insATC
XM_011537932.1:c.2338-119_2338-118insATC XP_011536234.1:n.2338-119_2338-118insATC
XM_011537933.1:c.2338-119_2338-118insATC XP_011536235.1:n.2338-119_2338-118insATC
XM_011537934.1:c.2335-119_2335-118insATC XP_011536236.1:n.2335-119_2335-118insATC
XM_011537935.1:c.1282-119_1282-118insATC XP_011536237.1:n.1282-119_1282-118insATC
XR_944910.1:n.269-70_269-69insGAT
XM_017018828.1:c.2338-119_2338-118insATC XP_016874317.1:n.2338-119_2338-118insATC
XM_017018829.1:c.2335-119_2335-118insATC XP_016874318.1:n.2335-119_2335-118insATC
XM_017018830.1:c.2128-119_2128-118insATC XP_016874319.1:n.2128-119_2128-118insATC
XM_017018831.2:c.1648-119_1648-118insATC XP_016874320.1:n.1648-119_1648-118insATC
NM_001844.5:c.2194-119_2194-118insATC MANE Select NP_001835.3:n.2194-119_2194-118insATC
NM_033150.3:c.1987-119_1987-118insATC NP_149162.2:n.1987-119_1987-118insATC