Canonical Allele Identifier: CA6536069
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 308936
dbSNP Id: rs142161948

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47999965G>A , CM000674.2:g.47999965G>A GRCh38
NC_000012.11:g.48393748G>A , CM000674.1:g.48393748G>A GRCh37
NC_000012.10:g.46680015G>A NCBI36
NG_008072.1:g.9538C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000337299.7:c.86-1534C>T ENSP00000338213.6:p.=
ENST00000380518.8:c.246C>T MANE Select ENSP00000369889.3:p.Phe82=
ENST00000490609.2:n.479C>T
ENST00000337299.6:n.86-1534C>T ENSP00000338213.6:p.=
ENST00000380518.7:c.246C>T ENSP00000369889.3:p.Phe82=
ENST00000474996.6:n.484C>T
ENST00000490609.1:n.411C>T
NM_001844.4:c.246C>T NP_001835.3:p.Phe82=
NM_033150.2:c.86-1534C>T NP_149162.2:p.=
XM_006719242.2:c.387C>T XP_006719305.2:p.Phe129=
XM_011537928.1:c.387C>T XP_011536230.1:p.Phe129=
XM_011537929.1:c.387C>T XP_011536231.1:p.Phe129=
XM_011537930.1:c.387C>T XP_011536232.1:p.Phe129=
XM_011537931.1:c.387C>T XP_011536233.1:p.Phe129=
XM_011537932.1:c.387C>T XP_011536234.1:p.Phe129=
XM_011537933.1:c.387C>T XP_011536235.1:p.Phe129=
XM_011537934.1:c.387C>T XP_011536236.1:p.Phe129=
XM_017018828.1:c.387C>T XP_016874317.1:p.Phe129=
XM_017018829.1:c.387C>T XP_016874318.1:p.Phe129=
XM_017018830.1:c.227-1534C>T XP_016874319.1:p.=
XM_017018831.2:c.-301C>T XP_016874320.1:p.=
NM_001844.5:c.246C>T MANE Select NP_001835.3:p.Phe82=
NM_033150.3:c.86-1534C>T NP_149162.2:p.=