Canonical Allele Identifier: CA384539378
Gene: COL2A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977104G>T , CM000674.2:g.47977104G>T GRCh38
NC_000012.11:g.48370887G>T , CM000674.1:g.48370887G>T GRCh37
NC_000012.10:g.46657154G>T NCBI36
NG_008072.1:g.32399C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.3118C>A ENSP00000338213.6:p.Gln1040Lys
ENST00000380518.8:c.3325C>A MANE Select ENSP00000369889.3:p.Gln1109Lys
ENST00000337299.6:c.3118C>A ENSP00000338213.6:p.Gln1040Lys
ENST00000380518.7:c.3325C>A ENSP00000369889.3:p.Gln1109Lys
ENST00000493991.5:n.2411C>A
ENST00000546974.1:n.178C>A
NM_001844.4:c.3325C>A NP_001835.3:p.Gln1109Lys
NM_033150.2:c.3118C>A NP_149162.2:p.Gln1040Lys
XM_006719242.2:c.3469C>A XP_006719305.2:p.Gln1157Lys
XM_011537928.1:c.3469C>A XP_011536230.1:p.Gln1157Lys
XM_011537929.1:c.3469C>A XP_011536231.1:p.Gln1157Lys
XM_011537930.1:c.3469C>A XP_011536232.1:p.Gln1157Lys
XM_011537931.1:c.3469C>A XP_011536233.1:p.Gln1157Lys
XM_011537932.1:c.3469C>A XP_011536234.1:p.Gln1157Lys
XM_011537933.1:c.3469C>A XP_011536235.1:p.Gln1157Lys
XM_011537934.1:c.3466C>A XP_011536236.1:p.Gln1156Lys
XM_011537935.1:c.2413C>A XP_011536237.1:p.Gln805Lys
XM_017018828.1:c.3469C>A XP_016874317.1:p.Gln1157Lys
XM_017018829.1:c.3466C>A XP_016874318.1:p.Gln1156Lys
XM_017018830.1:c.3259C>A XP_016874319.1:p.Gln1087Lys
XM_017018831.2:c.2779C>A XP_016874320.1:p.Gln927Lys
NM_001844.5:c.3325C>A MANE Select NP_001835.3:p.Gln1109Lys
NM_033150.3:c.3118C>A NP_149162.2:p.Gln1040Lys