Canonical Allele Identifier: CA2795861745
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47978484_47978485insAG , CM000674.2:g.47978484_47978485insAG GRCh38
NC_000012.11:g.48372267_48372268insAG , CM000674.1:g.48372267_48372268insAG GRCh37
NC_000012.10:g.46658534_46658535insAG NCBI36
NG_008072.1:g.31018_31019insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.2689-87_2689-86insCT ENSP00000338213.6:n.2689-87_2689-86insCT
ENST00000380518.8:c.2896-87_2896-86insCT MANE Select ENSP00000369889.3:n.2896-87_2896-86insCT
ENST00000337299.6:c.2689-87_2689-86insCT ENSP00000338213.6:n.2689-87_2689-86insCT
ENST00000380518.7:c.2896-87_2896-86insCT ENSP00000369889.3:n.2896-87_2896-86insCT
ENST00000493991.5:n.1982-87_1982-86insCT
NM_001844.4:c.2896-87_2896-86insCT NP_001835.3:n.2896-87_2896-86insCT
NM_033150.2:c.2689-87_2689-86insCT NP_149162.2:n.2689-87_2689-86insCT
XM_006719242.2:c.3040-87_3040-86insCT XP_006719305.2:n.3040-87_3040-86insCT
XM_011537928.1:c.3040-87_3040-86insCT XP_011536230.1:n.3040-87_3040-86insCT
XM_011537929.1:c.3040-87_3040-86insCT XP_011536231.1:n.3040-87_3040-86insCT
XM_011537930.1:c.3040-87_3040-86insCT XP_011536232.1:n.3040-87_3040-86insCT
XM_011537931.1:c.3040-87_3040-86insCT XP_011536233.1:n.3040-87_3040-86insCT
XM_011537932.1:c.3040-87_3040-86insCT XP_011536234.1:n.3040-87_3040-86insCT
XM_011537933.1:c.3040-87_3040-86insCT XP_011536235.1:n.3040-87_3040-86insCT
XM_011537934.1:c.3037-87_3037-86insCT XP_011536236.1:n.3037-87_3037-86insCT
XM_011537935.1:c.1984-87_1984-86insCT XP_011536237.1:n.1984-87_1984-86insCT
XM_017018828.1:c.3040-87_3040-86insCT XP_016874317.1:n.3040-87_3040-86insCT
XM_017018829.1:c.3037-87_3037-86insCT XP_016874318.1:n.3037-87_3037-86insCT
XM_017018830.1:c.2830-87_2830-86insCT XP_016874319.1:n.2830-87_2830-86insCT
XM_017018831.2:c.2350-87_2350-86insCT XP_016874320.1:n.2350-87_2350-86insCT
NM_001844.5:c.2896-87_2896-86insCT MANE Select NP_001835.3:n.2896-87_2896-86insCT
NM_033150.3:c.2689-87_2689-86insCT NP_149162.2:n.2689-87_2689-86insCT