Canonical Allele Identifier: CA3054202065
Community Standard Title: NM_001844.5(COL2A1):c.917_918delinsA (p.Gly306GlufsTer2)
Gene: COL2A1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993815_47993816delinsT , CM000674.2:g.47993815_47993816delinsT GRCh38
NC_000012.11:g.48387598_48387599delinsT , CM000674.1:g.48387598_48387599delinsT GRCh37
NC_000012.10:g.46673865_46673866delinsT NCBI36
NG_008072.1:g.15687_15688delinsA

Transcript Alleles

HGVS Amino-acid Change
NM_001844.5:c.917_918delinsA MANE Select NP_001835.3:p.Gly306GlufsTer2
ENST00000380518.8:c.917_918delinsA MANE Select ENSP00000369889.3:p.Gly306GlufsTer2
NM_001844.4:c.917_918delinsA NP_001835.3:p.Gly306GlufsTer2
NM_033150.2:c.710_711delinsA NP_149162.2:p.Gly237GlufsTer2
NM_033150.3:c.710_711delinsA NP_149162.2:p.Gly237GlufsTer2
ENST00000337299.6:c.710_711delinsA ENSP00000338213.6:p.Gly237GlufsTer2
ENST00000337299.7:c.710_711delinsA ENSP00000338213.6:p.Gly237GlufsTer2
ENST00000380518.7:c.917_918delinsA ENSP00000369889.3:p.Gly306GlufsTer2
XM_006719242.2:c.1061_1062delinsA XP_006719305.2:p.Gly354GlufsTer2
XM_011537928.1:c.1061_1062delinsA XP_011536230.1:p.Gly354GlufsTer2
XM_011537929.1:c.1061_1062delinsA XP_011536231.1:p.Gly354GlufsTer2
XM_011537930.1:c.1061_1062delinsA XP_011536232.1:p.Gly354GlufsTer2
XM_011537931.1:c.1061_1062delinsA XP_011536233.1:p.Gly354GlufsTer2
XM_011537932.1:c.1061_1062delinsA XP_011536234.1:p.Gly354GlufsTer2
XM_011537933.1:c.1061_1062delinsA XP_011536235.1:p.Gly354GlufsTer2
XM_011537934.1:c.1058_1059delinsA XP_011536236.1:p.Gly353GlufsTer2
XM_017018828.1:c.1061_1062delinsA XP_016874317.1:p.Gly354GlufsTer2
XM_017018829.1:c.1058_1059delinsA XP_016874318.1:p.Gly353GlufsTer2
XM_017018830.1:c.851_852delinsA XP_016874319.1:p.Gly284GlufsTer2
XM_017018831.2:c.371_372delinsA XP_016874320.1:p.Gly124GlufsTer2
Search 100 bp 5'
Search 100 bp 3'