Canonical Allele Identifier: CA204551
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17385
dbSNP Id: rs121912886

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47974090G>A , CM000674.2:g.47974090G>A GRCh38
NC_000012.11:g.48367873G>A , CM000674.1:g.48367873G>A GRCh37
NC_000012.10:g.46654140G>A NCBI36
NG_008072.1:g.35413C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.4109C>T ENSP00000338213.6:p.Thr1370Met
ENST00000380518.8:c.4316C>T MANE Select ENSP00000369889.3:p.Thr1439Met
ENST00000337299.6:c.4109C>T ENSP00000338213.6:p.Thr1370Met
ENST00000380518.7:c.4316C>T ENSP00000369889.3:p.Thr1439Met
ENST00000493991.5:n.3402C>T
NM_001844.4:c.4316C>T NP_001835.3:p.Thr1439Met
NM_033150.2:c.4109C>T NP_149162.2:p.Thr1370Met
XM_006719242.2:c.4460C>T XP_006719305.2:p.Thr1487Met
XM_011537928.1:c.4460C>T XP_011536230.1:p.Thr1487Met
XM_011537929.1:c.4460C>T XP_011536231.1:p.Thr1487Met
XM_011537930.1:c.4460C>T XP_011536232.1:p.Thr1487Met
XM_011537931.1:c.4460C>T XP_011536233.1:p.Thr1487Met
XM_011537932.1:c.4460C>T XP_011536234.1:p.Thr1487Met
XM_011537933.1:c.4460C>T XP_011536235.1:p.Thr1487Met
XM_011537934.1:c.4457C>T XP_011536236.1:p.Thr1486Met
XM_011537935.1:c.3404C>T XP_011536237.1:p.Thr1135Met
XM_017018828.1:c.4460C>T XP_016874317.1:p.Thr1487Met
XM_017018829.1:c.4457C>T XP_016874318.1:p.Thr1486Met
XM_017018830.1:c.4250C>T XP_016874319.1:p.Thr1417Met
XM_017018831.2:c.3770C>T XP_016874320.1:p.Thr1257Met
NM_001844.5:c.4316C>T MANE Select NP_001835.3:p.Thr1439Met
NM_033150.3:c.4109C>T NP_149162.2:p.Thr1370Met