Canonical Allele Identifier: CA16042898
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373034
ClinVar RCV Id: RCV000414107
dbSNP Id: rs1057518157

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977609dup , CM000674.2:g.47977609dup GRCh38
NC_000012.11:g.48371392dup , CM000674.1:g.48371392dup GRCh37
NC_000012.10:g.46657659dup NCBI36
NG_008072.1:g.31894dup

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.2949dup ENSP00000338213.6:p.Gly984TrpfsTer5
ENST00000380518.8:c.3156dup MANE Select ENSP00000369889.3:p.Gly1053TrpfsTer5
ENST00000337299.6:c.2949dup ENSP00000338213.6:p.Gly984TrpfsTer5
ENST00000380518.7:c.3156dup ENSP00000369889.3:p.Gly1053TrpfsTer5
ENST00000493991.5:n.2242dup
NM_001844.4:c.3156dup NP_001835.3:p.Gly1053TrpfsTer5
NM_033150.2:c.2949dup NP_149162.2:p.Gly984TrpfsTer5
XM_006719242.2:c.3300dup XP_006719305.2:p.Gly1101TrpfsTer5
XM_011537928.1:c.3300dup XP_011536230.1:p.Gly1101TrpfsTer5
XM_011537929.1:c.3300dup XP_011536231.1:p.Gly1101TrpfsTer5
XM_011537930.1:c.3300dup XP_011536232.1:p.Gly1101TrpfsTer5
XM_011537931.1:c.3300dup XP_011536233.1:p.Gly1101TrpfsTer5
XM_011537932.1:c.3300dup XP_011536234.1:p.Gly1101TrpfsTer5
XM_011537933.1:c.3300dup XP_011536235.1:p.Gly1101TrpfsTer5
XM_011537934.1:c.3297dup XP_011536236.1:p.Gly1100TrpfsTer5
XM_011537935.1:c.2244dup XP_011536237.1:p.Gly749TrpfsTer5
XM_017018828.1:c.3300dup XP_016874317.1:p.Gly1101TrpfsTer5
XM_017018829.1:c.3297dup XP_016874318.1:p.Gly1100TrpfsTer5
XM_017018830.1:c.3090dup XP_016874319.1:p.Gly1031TrpfsTer5
XM_017018831.2:c.2610dup XP_016874320.1:p.Gly871TrpfsTer5
NM_001844.5:c.3156dup MANE Select NP_001835.3:p.Gly1053TrpfsTer5
NM_033150.3:c.2949dup NP_149162.2:p.Gly984TrpfsTer5