Canonical Allele Identifier: CA236490671
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1187002
ClinVar RCV Id: RCV001546302
dbSNP Id: rs984944183

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993823C>A , CM000674.2:g.47993823C>A GRCh38
NC_000012.11:g.48387606C>A , CM000674.1:g.48387606C>A GRCh37
NC_000012.10:g.46673873C>A NCBI36
NG_008072.1:g.15680G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.703G>T ENSP00000338213.6:p.Ala235Ser
ENST00000380518.8:c.910G>T MANE Select ENSP00000369889.3:p.Ala304Ser
ENST00000337299.6:c.703G>T ENSP00000338213.6:p.Ala235Ser
ENST00000380518.7:c.910G>T ENSP00000369889.3:p.Ala304Ser
NM_001844.4:c.910G>T NP_001835.3:p.Ala304Ser
NM_033150.2:c.703G>T NP_149162.2:p.Ala235Ser
XM_006719242.2:c.1054G>T XP_006719305.2:p.Ala352Ser
XM_011537928.1:c.1054G>T XP_011536230.1:p.Ala352Ser
XM_011537929.1:c.1054G>T XP_011536231.1:p.Ala352Ser
XM_011537930.1:c.1054G>T XP_011536232.1:p.Ala352Ser
XM_011537931.1:c.1054G>T XP_011536233.1:p.Ala352Ser
XM_011537932.1:c.1054G>T XP_011536234.1:p.Ala352Ser
XM_011537933.1:c.1054G>T XP_011536235.1:p.Ala352Ser
XM_011537934.1:c.1051G>T XP_011536236.1:p.Ala351Ser
XM_017018828.1:c.1054G>T XP_016874317.1:p.Ala352Ser
XM_017018829.1:c.1051G>T XP_016874318.1:p.Ala351Ser
XM_017018830.1:c.844G>T XP_016874319.1:p.Ala282Ser
XM_017018831.2:c.364G>T XP_016874320.1:p.Ala122Ser
NM_001844.5:c.910G>T MANE Select NP_001835.3:p.Ala304Ser
NM_033150.3:c.703G>T NP_149162.2:p.Ala235Ser