Canonical Allele Identifier: CA10637555
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 308913
dbSNP Id: rs886049446

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47977349T>C , CM000674.2:g.47977349T>C GRCh38
NC_000012.11:g.48371132T>C , CM000674.1:g.48371132T>C GRCh37
NC_000012.10:g.46657399T>C NCBI36
NG_008072.1:g.32154A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.3037A>G ENSP00000338213.6:p.Thr1013Ala
ENST00000380518.8:c.3244A>G MANE Select ENSP00000369889.3:p.Thr1082Ala
ENST00000337299.6:c.3037A>G ENSP00000338213.6:p.Thr1013Ala
ENST00000380518.7:c.3244A>G ENSP00000369889.3:p.Thr1082Ala
ENST00000493991.5:n.2330A>G
ENST00000546974.1:n.97A>G
NM_001844.4:c.3244A>G NP_001835.3:p.Thr1082Ala
NM_033150.2:c.3037A>G NP_149162.2:p.Thr1013Ala
XM_006719242.2:c.3388A>G XP_006719305.2:p.Thr1130Ala
XM_011537928.1:c.3388A>G XP_011536230.1:p.Thr1130Ala
XM_011537929.1:c.3388A>G XP_011536231.1:p.Thr1130Ala
XM_011537930.1:c.3388A>G XP_011536232.1:p.Thr1130Ala
XM_011537931.1:c.3388A>G XP_011536233.1:p.Thr1130Ala
XM_011537932.1:c.3388A>G XP_011536234.1:p.Thr1130Ala
XM_011537933.1:c.3388A>G XP_011536235.1:p.Thr1130Ala
XM_011537934.1:c.3385A>G XP_011536236.1:p.Thr1129Ala
XM_011537935.1:c.2332A>G XP_011536237.1:p.Thr778Ala
XM_017018828.1:c.3388A>G XP_016874317.1:p.Thr1130Ala
XM_017018829.1:c.3385A>G XP_016874318.1:p.Thr1129Ala
XM_017018830.1:c.3178A>G XP_016874319.1:p.Thr1060Ala
XM_017018831.2:c.2698A>G XP_016874320.1:p.Thr900Ala
NM_001844.5:c.3244A>G MANE Select NP_001835.3:p.Thr1082Ala
NM_033150.3:c.3037A>G NP_149162.2:p.Thr1013Ala