Canonical Allele Identifier: CA2034479488

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995714_47995723delinsACACCAGGTT , CM000674.2:g.47995714_47995723delinsACACCAGGTT	GRCh38
NC_000012.11:g.48389497_48389506delinsACACCAGGTT , CM000674.1:g.48389497_48389506delinsACACCAGGTT	GRCh37
NC_000012.10:g.46675764_46675773delinsACACCAGGTT	NCBI36
NG_008072.1:g.13780_13789delinsAACCTGGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.488_497delinsAACCTGGTGT	ENSP00000338213.6:p.Glu163=
ENST00000380518.8:c.695_704delinsAACCTGGTGT MANE Select	ENSP00000369889.3:p.Glu232=
ENST00000337299.6:c.488_497delinsAACCTGGTGT	ENSP00000338213.6:p.Glu163=
ENST00000380518.7:c.695_704delinsAACCTGGTGT	ENSP00000369889.3:p.Glu232=
NM_001844.4:c.695_704delinsAACCTGGTGT	NP_001835.3:p.Glu232=
NM_033150.2:c.488_497delinsAACCTGGTGT	NP_149162.2:p.Glu163=
XM_006719242.2:c.839_848delinsAACCTGGTGT	XP_006719305.2:p.Glu280=
XM_011537928.1:c.839_848delinsAACCTGGTGT	XP_011536230.1:p.Glu280=
XM_011537929.1:c.839_848delinsAACCTGGTGT	XP_011536231.1:p.Glu280=
XM_011537930.1:c.839_848delinsAACCTGGTGT	XP_011536232.1:p.Glu280=
XM_011537931.1:c.839_848delinsAACCTGGTGT	XP_011536233.1:p.Glu280=
XM_011537932.1:c.839_848delinsAACCTGGTGT	XP_011536234.1:p.Glu280=
XM_011537933.1:c.839_848delinsAACCTGGTGT	XP_011536235.1:p.Glu280=
XM_011537934.1:c.836_845delinsAACCTGGTGT	XP_011536236.1:p.Glu279=
XM_017018828.1:c.839_848delinsAACCTGGTGT	XP_016874317.1:p.Glu280=
XM_017018829.1:c.836_845delinsAACCTGGTGT	XP_016874318.1:p.Glu279=
XM_017018830.1:c.629_638delinsAACCTGGTGT	XP_016874319.1:p.Glu210=
XM_017018831.2:c.149_158delinsAACCTGGTGT	XP_016874320.1:p.Glu50=
NM_001844.5:c.695_704delinsAACCTGGTGT MANE Select	NP_001835.3:p.Glu232=
NM_033150.3:c.488_497delinsAACCTGGTGT	NP_149162.2:p.Glu163=