Canonical Allele Identifier: CA384551582
Gene: COL2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47985780C>A , CM000674.2:g.47985780C>A GRCh38
NC_000012.11:g.48379563C>A , CM000674.1:g.48379563C>A GRCh37
NC_000012.10:g.46665830C>A NCBI36
NG_008072.1:g.23723G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.1421G>T ENSP00000338213.6:p.Gly474Val
ENST00000380518.8:c.1628G>T MANE Select ENSP00000369889.3:p.Gly543Val
ENST00000337299.6:c.1421G>T ENSP00000338213.6:p.Gly474Val
ENST00000380518.7:c.1628G>T ENSP00000369889.3:p.Gly543Val
ENST00000493991.5:n.552G>T
NM_001844.4:c.1628G>T NP_001835.3:p.Gly543Val
NM_033150.2:c.1421G>T NP_149162.2:p.Gly474Val
XM_006719242.2:c.1772G>T XP_006719305.2:p.Gly591Val
XM_011537928.1:c.1772G>T XP_011536230.1:p.Gly591Val
XM_011537929.1:c.1772G>T XP_011536231.1:p.Gly591Val
XM_011537930.1:c.1772G>T XP_011536232.1:p.Gly591Val
XM_011537931.1:c.1772G>T XP_011536233.1:p.Gly591Val
XM_011537932.1:c.1772G>T XP_011536234.1:p.Gly591Val
XM_011537933.1:c.1772G>T XP_011536235.1:p.Gly591Val
XM_011537934.1:c.1769G>T XP_011536236.1:p.Gly590Val
XM_011537935.1:c.716G>T XP_011536237.1:p.Gly239Val
XM_017018828.1:c.1772G>T XP_016874317.1:p.Gly591Val
XM_017018829.1:c.1769G>T XP_016874318.1:p.Gly590Val
XM_017018830.1:c.1562G>T XP_016874319.1:p.Gly521Val
XM_017018831.2:c.1082G>T XP_016874320.1:p.Gly361Val
NM_001844.5:c.1628G>T MANE Select NP_001835.3:p.Gly543Val
NM_033150.3:c.1421G>T NP_149162.2:p.Gly474Val