Canonical Allele Identifier: CA2695216311

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993835_47993838del , CM000674.2:g.47993835_47993838del	GRCh38
NC_000012.11:g.48387618_48387621del , CM000674.1:g.48387618_48387621del	GRCh37
NC_000012.10:g.46673885_46673888del	NCBI36
NG_008072.1:g.15665_15668del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.688_691del	ENSP00000338213.6:p.Lys230GlufsTer8
ENST00000380518.8:c.895_898del MANE Select	ENSP00000369889.3:p.Lys299GlufsTer8
ENST00000337299.6:c.688_691del	ENSP00000338213.6:p.Lys230GlufsTer8
ENST00000380518.7:c.895_898del	ENSP00000369889.3:p.Lys299GlufsTer8
NM_001844.4:c.895_898del	NP_001835.3:p.Lys299GlufsTer8
NM_033150.2:c.688_691del	NP_149162.2:p.Lys230GlufsTer8
XM_006719242.2:c.1039_1042del	XP_006719305.2:p.Lys347GlufsTer8
XM_011537928.1:c.1039_1042del	XP_011536230.1:p.Lys347GlufsTer8
XM_011537929.1:c.1039_1042del	XP_011536231.1:p.Lys347GlufsTer8
XM_011537930.1:c.1039_1042del	XP_011536232.1:p.Lys347GlufsTer8
XM_011537931.1:c.1039_1042del	XP_011536233.1:p.Lys347GlufsTer8
XM_011537932.1:c.1039_1042del	XP_011536234.1:p.Lys347GlufsTer8
XM_011537933.1:c.1039_1042del	XP_011536235.1:p.Lys347GlufsTer8
XM_011537934.1:c.1036_1039del	XP_011536236.1:p.Lys346GlufsTer8
XM_017018828.1:c.1039_1042del	XP_016874317.1:p.Lys347GlufsTer8
XM_017018829.1:c.1036_1039del	XP_016874318.1:p.Lys346GlufsTer8
XM_017018830.1:c.829_832del	XP_016874319.1:p.Lys277GlufsTer8
XM_017018831.2:c.349_352del	XP_016874320.1:p.Lys117GlufsTer8
NM_001844.5:c.895_898del MANE Select	NP_001835.3:p.Lys299GlufsTer8
NM_033150.3:c.688_691del	NP_149162.2:p.Lys230GlufsTer8