Canonical Allele Identifier: CA2575137425

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978303del , CM000674.2:g.47978303del	GRCh38
NC_000012.11:g.48372086del , CM000674.1:g.48372086del	GRCh37
NC_000012.10:g.46658353del	NCBI36
NG_008072.1:g.31200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2784del	ENSP00000338213.6:p.Leu928PhefsTer?
ENST00000380518.8:c.2991del MANE Select	ENSP00000369889.3:p.Leu997PhefsTer?
ENST00000337299.6:c.2784del	ENSP00000338213.6:p.Leu928PhefsTer?
ENST00000380518.7:c.2991del	ENSP00000369889.3:p.Leu997PhefsTer?
ENST00000493991.5:n.2077del
NM_001844.4:c.2991del	NP_001835.3:p.Leu997PhefsTer?
NM_033150.2:c.2784del	NP_149162.2:p.Leu928PhefsTer?
XM_006719242.2:c.3135del	XP_006719305.2:p.Leu1045PhefsTer?
XM_011537928.1:c.3135del	XP_011536230.1:p.Leu1045PhefsTer?
XM_011537929.1:c.3135del	XP_011536231.1:p.Leu1045PhefsTer?
XM_011537930.1:c.3135del	XP_011536232.1:p.Leu1045PhefsTer?
XM_011537931.1:c.3135del	XP_011536233.1:p.Leu1045PhefsTer?
XM_011537932.1:c.3135del	XP_011536234.1:p.Leu1045PhefsTer?
XM_011537933.1:c.3135del	XP_011536235.1:p.Leu1045PhefsTer?
XM_011537934.1:c.3132del	XP_011536236.1:p.Leu1044PhefsTer?
XM_011537935.1:c.2079del	XP_011536237.1:p.Leu693PhefsTer?
XM_017018828.1:c.3135del	XP_016874317.1:p.Leu1045PhefsTer?
XM_017018829.1:c.3132del	XP_016874318.1:p.Leu1044PhefsTer?
XM_017018830.1:c.2925del	XP_016874319.1:p.Leu975PhefsTer?
XM_017018831.2:c.2445del	XP_016874320.1:p.Leu815PhefsTer?
NM_001844.5:c.2991del MANE Select	NP_001835.3:p.Leu997PhefsTer?
NM_033150.3:c.2784del	NP_149162.2:p.Leu928PhefsTer?