Canonical Allele Identifier: CA6535721
Gene: COL2A1 HGNC NCBI

Linked Data

dbSNP Id: rs770069254

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993783T>A , CM000674.2:g.47993783T>A GRCh38
NC_000012.11:g.48387566T>A , CM000674.1:g.48387566T>A GRCh37
NC_000012.10:g.46673833T>A NCBI36
NG_008072.1:g.15720A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337299.7:c.717+26A>T ENSP00000338213.6:n.717+26A>T
ENST00000380518.8:c.924+26A>T MANE Select ENSP00000369889.3:n.924+26A>T
ENST00000337299.6:c.717+26A>T ENSP00000338213.6:n.717+26A>T
ENST00000380518.7:c.924+26A>T ENSP00000369889.3:n.924+26A>T
NM_001844.4:c.924+26A>T NP_001835.3:n.924+26A>T
NM_033150.2:c.717+26A>T NP_149162.2:n.717+26A>T
XM_006719242.2:c.1068+26A>T XP_006719305.2:n.1068+26A>T
XM_011537928.1:c.1068+26A>T XP_011536230.1:n.1068+26A>T
XM_011537929.1:c.1068+26A>T XP_011536231.1:n.1068+26A>T
XM_011537930.1:c.1068+26A>T XP_011536232.1:n.1068+26A>T
XM_011537931.1:c.1068+26A>T XP_011536233.1:n.1068+26A>T
XM_011537932.1:c.1068+26A>T XP_011536234.1:n.1068+26A>T
XM_011537933.1:c.1068+26A>T XP_011536235.1:n.1068+26A>T
XM_011537934.1:c.1065+26A>T XP_011536236.1:n.1065+26A>T
XM_017018828.1:c.1068+26A>T XP_016874317.1:n.1068+26A>T
XM_017018829.1:c.1065+26A>T XP_016874318.1:n.1065+26A>T
XM_017018830.1:c.858+26A>T XP_016874319.1:n.858+26A>T
XM_017018831.2:c.378+26A>T XP_016874320.1:n.378+26A>T
NM_001844.5:c.924+26A>T MANE Select NP_001835.3:n.924+26A>T
NM_033150.3:c.717+26A>T NP_149162.2:n.717+26A>T