Canonical Allele Identifier: CA6534773
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1510081
ClinVar RCV Id: RCV002011499
dbSNP Id: rs776292672

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47976849C>T , CM000674.2:g.47976849C>T GRCh38
NC_000012.11:g.48370632C>T , CM000674.1:g.48370632C>T GRCh37
NC_000012.10:g.46656899C>T NCBI36
NG_008072.1:g.32654G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.3191G>A ENSP00000338213.6:p.Arg1064His
ENST00000380518.8:c.3398G>A MANE Select ENSP00000369889.3:p.Arg1133His
ENST00000337299.6:c.3191G>A ENSP00000338213.6:p.Arg1064His
ENST00000380518.7:c.3398G>A ENSP00000369889.3:p.Arg1133His
ENST00000493991.5:n.2484G>A
ENST00000546974.1:n.251G>A
NM_001844.4:c.3398G>A NP_001835.3:p.Arg1133His
NM_033150.2:c.3191G>A NP_149162.2:p.Arg1064His
XM_006719242.2:c.3542G>A XP_006719305.2:p.Arg1181His
XM_011537928.1:c.3542G>A XP_011536230.1:p.Arg1181His
XM_011537929.1:c.3542G>A XP_011536231.1:p.Arg1181His
XM_011537930.1:c.3542G>A XP_011536232.1:p.Arg1181His
XM_011537931.1:c.3542G>A XP_011536233.1:p.Arg1181His
XM_011537932.1:c.3542G>A XP_011536234.1:p.Arg1181His
XM_011537933.1:c.3542G>A XP_011536235.1:p.Arg1181His
XM_011537934.1:c.3539G>A XP_011536236.1:p.Arg1180His
XM_011537935.1:c.2486G>A XP_011536237.1:p.Arg829His
XM_017018828.1:c.3542G>A XP_016874317.1:p.Arg1181His
XM_017018829.1:c.3539G>A XP_016874318.1:p.Arg1180His
XM_017018830.1:c.3332G>A XP_016874319.1:p.Arg1111His
XM_017018831.2:c.2852G>A XP_016874320.1:p.Arg951His
NM_001844.5:c.3398G>A MANE Select NP_001835.3:p.Arg1133His
NM_033150.3:c.3191G>A NP_149162.2:p.Arg1064His