Canonical Allele Identifier: CA479440403
Community Standard Title: NM_001844.5(COL2A1):c.921G>T (p.Val307=)
Gene: COL2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.47993812C>A , CM000674.2:g.47993812C>A GRCh38
NC_000012.11:g.48387595C>A , CM000674.1:g.48387595C>A GRCh37
NC_000012.10:g.46673862C>A NCBI36
NG_008072.1:g.15691G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001844.5:c.921G>T MANE Select NP_001835.3:p.Val307=
ENST00000380518.8:c.921G>T MANE Select ENSP00000369889.3:p.Val307=
NM_001844.4:c.921G>T NP_001835.3:p.Val307=
NM_033150.2:c.714G>T NP_149162.2:p.Val238=
NM_033150.3:c.714G>T NP_149162.2:p.Val238=
ENST00000337299.6:c.714G>T ENSP00000338213.6:p.Val238=
ENST00000337299.7:c.714G>T ENSP00000338213.6:p.Val238=
ENST00000380518.7:c.921G>T ENSP00000369889.3:p.Val307=
XM_006719242.2:c.1065G>T XP_006719305.2:p.Val355=
XM_011537928.1:c.1065G>T XP_011536230.1:p.Val355=
XM_011537929.1:c.1065G>T XP_011536231.1:p.Val355=
XM_011537930.1:c.1065G>T XP_011536232.1:p.Val355=
XM_011537931.1:c.1065G>T XP_011536233.1:p.Val355=
XM_011537932.1:c.1065G>T XP_011536234.1:p.Val355=
XM_011537933.1:c.1065G>T XP_011536235.1:p.Val355=
XM_011537934.1:c.1062G>T XP_011536236.1:p.Val354=
XM_017018828.1:c.1065G>T XP_016874317.1:p.Val355=
XM_017018829.1:c.1062G>T XP_016874318.1:p.Val354=
XM_017018830.1:c.855G>T XP_016874319.1:p.Val285=
XM_017018831.2:c.375G>T XP_016874320.1:p.Val125=