Canonical Allele Identifier: CA2842407724

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974157dup , CM000674.2:g.47974157dup	GRCh38
NC_000012.11:g.48367940dup , CM000674.1:g.48367940dup	GRCh37
NC_000012.10:g.46654207dup	NCBI36
NG_008072.1:g.35347dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.4043dup	ENSP00000338213.6:p.Asn1348LysfsTer2
ENST00000380518.8:c.4250dup MANE Select	ENSP00000369889.3:p.Asn1417LysfsTer2
ENST00000337299.6:c.4043dup	ENSP00000338213.6:p.Asn1348LysfsTer2
ENST00000380518.7:c.4250dup	ENSP00000369889.3:p.Asn1417LysfsTer2
ENST00000493991.5:n.3336dup
NM_001844.4:c.4250dup	NP_001835.3:p.Asn1417LysfsTer2
NM_033150.2:c.4043dup	NP_149162.2:p.Asn1348LysfsTer2
XM_006719242.2:c.4394dup	XP_006719305.2:p.Asn1465LysfsTer2
XM_011537928.1:c.4394dup	XP_011536230.1:p.Asn1465LysfsTer2
XM_011537929.1:c.4394dup	XP_011536231.1:p.Asn1465LysfsTer2
XM_011537930.1:c.4394dup	XP_011536232.1:p.Asn1465LysfsTer2
XM_011537931.1:c.4394dup	XP_011536233.1:p.Asn1465LysfsTer2
XM_011537932.1:c.4394dup	XP_011536234.1:p.Asn1465LysfsTer2
XM_011537933.1:c.4394dup	XP_011536235.1:p.Asn1465LysfsTer2
XM_011537934.1:c.4391dup	XP_011536236.1:p.Asn1464LysfsTer2
XM_011537935.1:c.3338dup	XP_011536237.1:p.Asn1113LysfsTer2
XM_017018828.1:c.4394dup	XP_016874317.1:p.Asn1465LysfsTer2
XM_017018829.1:c.4391dup	XP_016874318.1:p.Asn1464LysfsTer2
XM_017018830.1:c.4184dup	XP_016874319.1:p.Asn1395LysfsTer2
XM_017018831.2:c.3704dup	XP_016874320.1:p.Asn1235LysfsTer2
NM_001844.5:c.4250dup MANE Select	NP_001835.3:p.Asn1417LysfsTer2
NM_033150.3:c.4043dup	NP_149162.2:p.Asn1348LysfsTer2