Canonical Allele Identifier: CA2695216641

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978063_47978065del , CM000674.2:g.47978063_47978065del	GRCh38
NC_000012.11:g.48371846_48371848del , CM000674.1:g.48371846_48371848del	GRCh37
NC_000012.10:g.46658113_46658115del	NCBI36
NG_008072.1:g.31438_31440del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2849_2851del	ENSP00000338213.6:p.Pro950_Gly951delinsArg
ENST00000380518.8:c.3056_3058del MANE Select	ENSP00000369889.3:p.Pro1019_Gly1020delinsArg
ENST00000337299.6:c.2849_2851del	ENSP00000338213.6:p.Pro950_Gly951delinsArg
ENST00000380518.7:c.3056_3058del	ENSP00000369889.3:p.Pro1019_Gly1020delinsArg
ENST00000493991.5:n.2142_2144del
NM_001844.4:c.3056_3058del	NP_001835.3:p.Pro1019_Gly1020delinsArg
NM_033150.2:c.2849_2851del	NP_149162.2:p.Pro950_Gly951delinsArg
XM_006719242.2:c.3200_3202del	XP_006719305.2:p.Pro1067_Gly1068delinsArg
XM_011537928.1:c.3200_3202del	XP_011536230.1:p.Pro1067_Gly1068delinsArg
XM_011537929.1:c.3200_3202del	XP_011536231.1:p.Pro1067_Gly1068delinsArg
XM_011537930.1:c.3200_3202del	XP_011536232.1:p.Pro1067_Gly1068delinsArg
XM_011537931.1:c.3200_3202del	XP_011536233.1:p.Pro1067_Gly1068delinsArg
XM_011537932.1:c.3200_3202del	XP_011536234.1:p.Pro1067_Gly1068delinsArg
XM_011537933.1:c.3200_3202del	XP_011536235.1:p.Pro1067_Gly1068delinsArg
XM_011537934.1:c.3197_3199del	XP_011536236.1:p.Pro1066_Gly1067delinsArg
XM_011537935.1:c.2144_2146del	XP_011536237.1:p.Pro715_Gly716delinsArg
XM_017018828.1:c.3200_3202del	XP_016874317.1:p.Pro1067_Gly1068delinsArg
XM_017018829.1:c.3197_3199del	XP_016874318.1:p.Pro1066_Gly1067delinsArg
XM_017018830.1:c.2990_2992del	XP_016874319.1:p.Pro997_Gly998delinsArg
XM_017018831.2:c.2510_2512del	XP_016874320.1:p.Pro837_Gly838delinsArg
NM_001844.5:c.3056_3058del MANE Select	NP_001835.3:p.Pro1019_Gly1020delinsArg
NM_033150.3:c.2849_2851del	NP_149162.2:p.Pro950_Gly951delinsArg