Canonical Allele Identifier: CA2034477547
Community Standard Title: NM_001844.5(COL2A1):c.920T= (p.Val307=)
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993813A= , CM000674.2:g.47993813A= GRCh38
NC_000012.11:g.48387596A= , CM000674.1:g.48387596A= GRCh37
NC_000012.10:g.46673863A= NCBI36
NG_008072.1:g.15690T=

Transcript Alleles

HGVS Amino-acid Change
NM_001844.5:c.920T= MANE Select NP_001835.3:p.Val307=
ENST00000380518.8:c.920T= MANE Select ENSP00000369889.3:p.Val307=
NM_001844.4:c.920T= NP_001835.3:p.Val307=
NM_033150.2:c.713T= NP_149162.2:p.Val238=
NM_033150.3:c.713T= NP_149162.2:p.Val238=
ENST00000337299.6:c.713T= ENSP00000338213.6:p.Val238=
ENST00000337299.7:c.713T= ENSP00000338213.6:p.Val238=
ENST00000380518.7:c.920T= ENSP00000369889.3:p.Val307=
XM_006719242.2:c.1064T= XP_006719305.2:p.Val355=
XM_011537928.1:c.1064T= XP_011536230.1:p.Val355=
XM_011537929.1:c.1064T= XP_011536231.1:p.Val355=
XM_011537930.1:c.1064T= XP_011536232.1:p.Val355=
XM_011537931.1:c.1064T= XP_011536233.1:p.Val355=
XM_011537932.1:c.1064T= XP_011536234.1:p.Val355=
XM_011537933.1:c.1064T= XP_011536235.1:p.Val355=
XM_011537934.1:c.1061T= XP_011536236.1:p.Val354=
XM_017018828.1:c.1064T= XP_016874317.1:p.Val355=
XM_017018829.1:c.1061T= XP_016874318.1:p.Val354=
XM_017018830.1:c.854T= XP_016874319.1:p.Val285=
XM_017018831.2:c.374T= XP_016874320.1:p.Val125=