Canonical Allele Identifier: CA6535432
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258213
dbSNP Id: rs186233557

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47985759C>A , CM000674.2:g.47985759C>A GRCh38
NC_000012.11:g.48379542C>A , CM000674.1:g.48379542C>A GRCh37
NC_000012.10:g.46665809C>A NCBI36
NG_008072.1:g.23744G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.1442G>T ENSP00000338213.6:p.Arg481Leu
ENST00000380518.8:c.1649G>T MANE Select ENSP00000369889.3:p.Arg550Leu
ENST00000337299.6:n.1442G>T ENSP00000338213.6:p.Arg481Leu
ENST00000380518.7:c.1649G>T ENSP00000369889.3:p.Arg550Leu
ENST00000493991.5:n.573G>T
NM_001844.4:c.1649G>T NP_001835.3:p.Arg550Leu
NM_033150.2:c.1442G>T NP_149162.2:p.Arg481Leu
XM_006719242.2:c.1793G>T XP_006719305.2:p.Arg598Leu
XM_011537928.1:c.1793G>T XP_011536230.1:p.Arg598Leu
XM_011537929.1:c.1793G>T XP_011536231.1:p.Arg598Leu
XM_011537930.1:c.1793G>T XP_011536232.1:p.Arg598Leu
XM_011537931.1:c.1793G>T XP_011536233.1:p.Arg598Leu
XM_011537932.1:c.1793G>T XP_011536234.1:p.Arg598Leu
XM_011537933.1:c.1793G>T XP_011536235.1:p.Arg598Leu
XM_011537934.1:c.1790G>T XP_011536236.1:p.Arg597Leu
XM_011537935.1:c.737G>T XP_011536237.1:p.Arg246Leu
XM_017018828.1:c.1793G>T XP_016874317.1:p.Arg598Leu
XM_017018829.1:c.1790G>T XP_016874318.1:p.Arg597Leu
XM_017018830.1:c.1583G>T XP_016874319.1:p.Arg528Leu
XM_017018831.2:c.1103G>T XP_016874320.1:p.Arg368Leu
NM_001844.5:c.1649G>T MANE Select NP_001835.3:p.Arg550Leu
NM_033150.3:c.1442G>T NP_149162.2:p.Arg481Leu