Canonical Allele Identifier: CA384551791
Gene: COL2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47985817C>A , CM000674.2:g.47985817C>A GRCh38
NC_000012.11:g.48379600C>A , CM000674.1:g.48379600C>A GRCh37
NC_000012.10:g.46665867C>A NCBI36
NG_008072.1:g.23686G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.1384G>T ENSP00000338213.6:p.Gly462Ter
ENST00000380518.8:c.1591G>T MANE Select ENSP00000369889.3:p.Gly531Ter
ENST00000337299.6:c.1384G>T ENSP00000338213.6:p.Gly462Ter
ENST00000380518.7:c.1591G>T ENSP00000369889.3:p.Gly531Ter
ENST00000493991.5:n.515G>T
NM_001844.4:c.1591G>T NP_001835.3:p.Gly531Ter
NM_033150.2:c.1384G>T NP_149162.2:p.Gly462Ter
XM_006719242.2:c.1735G>T XP_006719305.2:p.Gly579Ter
XM_011537928.1:c.1735G>T XP_011536230.1:p.Gly579Ter
XM_011537929.1:c.1735G>T XP_011536231.1:p.Gly579Ter
XM_011537930.1:c.1735G>T XP_011536232.1:p.Gly579Ter
XM_011537931.1:c.1735G>T XP_011536233.1:p.Gly579Ter
XM_011537932.1:c.1735G>T XP_011536234.1:p.Gly579Ter
XM_011537933.1:c.1735G>T XP_011536235.1:p.Gly579Ter
XM_011537934.1:c.1732G>T XP_011536236.1:p.Gly578Ter
XM_011537935.1:c.679G>T XP_011536237.1:p.Gly227Ter
XM_017018828.1:c.1735G>T XP_016874317.1:p.Gly579Ter
XM_017018829.1:c.1732G>T XP_016874318.1:p.Gly578Ter
XM_017018830.1:c.1525G>T XP_016874319.1:p.Gly509Ter
XM_017018831.2:c.1045G>T XP_016874320.1:p.Gly349Ter
NM_001844.5:c.1591G>T MANE Select NP_001835.3:p.Gly531Ter
NM_033150.3:c.1384G>T NP_149162.2:p.Gly462Ter