Canonical Allele Identifier: CA479696632
Gene: COL2A1 HGNC NCBI

Linked Data

dbSNP Id: rs1938838060
MyVariant Identifiers: chr12:g.48372074C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47978291C>T , CM000674.2:g.47978291C>T GRCh38
NC_000012.11:g.48372074C>T , CM000674.1:g.48372074C>T GRCh37
NC_000012.10:g.46658341C>T NCBI36
NG_008072.1:g.31212G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.2796G>A ENSP00000338213.6:p.Ser932=
ENST00000380518.8:c.3003G>A MANE Select ENSP00000369889.3:p.Ser1001=
ENST00000337299.6:c.2796G>A ENSP00000338213.6:p.Ser932=
ENST00000380518.7:c.3003G>A ENSP00000369889.3:p.Ser1001=
ENST00000493991.5:n.2089G>A
NM_001844.4:c.3003G>A NP_001835.3:p.Ser1001=
NM_033150.2:c.2796G>A NP_149162.2:p.Ser932=
XM_006719242.2:c.3147G>A XP_006719305.2:p.Ser1049=
XM_011537928.1:c.3147G>A XP_011536230.1:p.Ser1049=
XM_011537929.1:c.3147G>A XP_011536231.1:p.Ser1049=
XM_011537930.1:c.3147G>A XP_011536232.1:p.Ser1049=
XM_011537931.1:c.3147G>A XP_011536233.1:p.Ser1049=
XM_011537932.1:c.3147G>A XP_011536234.1:p.Ser1049=
XM_011537933.1:c.3147G>A XP_011536235.1:p.Ser1049=
XM_011537934.1:c.3144G>A XP_011536236.1:p.Ser1048=
XM_011537935.1:c.2091G>A XP_011536237.1:p.Ser697=
XM_017018828.1:c.3147G>A XP_016874317.1:p.Ser1049=
XM_017018829.1:c.3144G>A XP_016874318.1:p.Ser1048=
XM_017018830.1:c.2937G>A XP_016874319.1:p.Ser979=
XM_017018831.2:c.2457G>A XP_016874320.1:p.Ser819=
NM_001844.5:c.3003G>A MANE Select NP_001835.3:p.Ser1001=
NM_033150.3:c.2796G>A NP_149162.2:p.Ser932=