Canonical Allele Identifier: CA127176
Gene: COL2A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 17395
dbSNP Id: rs121912893

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47983721G>A , CM000674.2:g.47983721G>A GRCh38
NC_000012.10:g.46663771G>A NCBI36
NC_000012.11:g.48377504G>A , CM000674.1:g.48377504G>A GRCh37
NG_008072.1:g.25782C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.6:n.1750C>T ENSP00000338213.6:p.Arg584Ter
ENST00000380518.7:c.1957C>T ENSP00000369889.3:p.Arg653Ter
ENST00000483376.1:n.135C>T
ENST00000493991.5:n.881C>T
NM_001844.4:c.1957C>T NP_001835.3:p.Arg653Ter
NM_033150.2:c.1750C>T NP_149162.2:p.Arg584Ter
XM_006719242.2:c.2101C>T XP_006719305.2:p.Arg701Ter
XM_011537928.1:c.2101C>T XP_011536230.1:p.Arg701Ter
XM_011537929.1:c.2101C>T XP_011536231.1:p.Arg701Ter
XM_011537930.1:c.2101C>T XP_011536232.1:p.Arg701Ter
XM_011537931.1:c.2101C>T XP_011536233.1:p.Arg701Ter
XM_011537932.1:c.2101C>T XP_011536234.1:p.Arg701Ter
XM_011537933.1:c.2101C>T XP_011536235.1:p.Arg701Ter
XM_011537934.1:c.2098C>T XP_011536236.1:p.Arg700Ter
XM_011537935.1:c.1045C>T XP_011536237.1:p.Arg349Ter