Canonical Allele Identifier: CA16619530
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420058
ClinVar RCV Id: RCV000484205
dbSNP Id: rs1064794264

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47995882C>T , CM000674.2:g.47995882C>T GRCh38
NC_000012.11:g.48389665C>T , CM000674.1:g.48389665C>T GRCh37
NC_000012.10:g.46675932C>T NCBI36
NG_008072.1:g.13621G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.440G>A ENSP00000338213.6:p.Gly147Asp
ENST00000380518.8:c.647G>A MANE Select ENSP00000369889.3:p.Gly216Asp
ENST00000337299.6:c.440G>A ENSP00000338213.6:p.Gly147Asp
ENST00000380518.7:c.647G>A ENSP00000369889.3:p.Gly216Asp
NM_001844.4:c.647G>A NP_001835.3:p.Gly216Asp
NM_033150.2:c.440G>A NP_149162.2:p.Gly147Asp
XM_006719242.2:c.791G>A XP_006719305.2:p.Gly264Asp
XM_011537928.1:c.791G>A XP_011536230.1:p.Gly264Asp
XM_011537929.1:c.791G>A XP_011536231.1:p.Gly264Asp
XM_011537930.1:c.791G>A XP_011536232.1:p.Gly264Asp
XM_011537931.1:c.791G>A XP_011536233.1:p.Gly264Asp
XM_011537932.1:c.791G>A XP_011536234.1:p.Gly264Asp
XM_011537933.1:c.791G>A XP_011536235.1:p.Gly264Asp
XM_011537934.1:c.788G>A XP_011536236.1:p.Gly263Asp
XM_017018828.1:c.791G>A XP_016874317.1:p.Gly264Asp
XM_017018829.1:c.788G>A XP_016874318.1:p.Gly263Asp
XM_017018830.1:c.581G>A XP_016874319.1:p.Gly194Asp
XM_017018831.2:c.101G>A XP_016874320.1:p.Gly34Asp
NM_001844.5:c.647G>A MANE Select NP_001835.3:p.Gly216Asp
NM_033150.3:c.440G>A NP_149162.2:p.Gly147Asp