Canonical Allele Identifier: CA2697559178

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2768475
• ClinVar RCV Id: RCV003576397

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47976046_47976047del , CM000674.2:g.47976046_47976047del	GRCh38
NC_000012.11:g.48369829_48369830del , CM000674.1:g.48369829_48369830del	GRCh37
NC_000012.10:g.46656096_46656097del	NCBI36
NG_008072.1:g.33458_33459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3308_3309del	ENSP00000338213.6:p.Ser1103TrpfsTer6
ENST00000380518.8:c.3515_3516del MANE Select	ENSP00000369889.3:p.Ser1172TrpfsTer6
ENST00000337299.6:c.3308_3309del	ENSP00000338213.6:p.Ser1103TrpfsTer6
ENST00000380518.7:c.3515_3516del	ENSP00000369889.3:p.Ser1172TrpfsTer6
ENST00000493991.5:n.2601_2602del
ENST00000546974.1:n.368_369del
NM_001844.4:c.3515_3516del	NP_001835.3:p.Ser1172TrpfsTer6
NM_033150.2:c.3308_3309del	NP_149162.2:p.Ser1103TrpfsTer6
XM_006719242.2:c.3659_3660del	XP_006719305.2:p.Ser1220TrpfsTer6
XM_011537928.1:c.3659_3660del	XP_011536230.1:p.Ser1220TrpfsTer6
XM_011537929.1:c.3659_3660del	XP_011536231.1:p.Ser1220TrpfsTer6
XM_011537930.1:c.3659_3660del	XP_011536232.1:p.Ser1220TrpfsTer6
XM_011537931.1:c.3659_3660del	XP_011536233.1:p.Ser1220TrpfsTer6
XM_011537932.1:c.3659_3660del	XP_011536234.1:p.Ser1220TrpfsTer6
XM_011537933.1:c.3659_3660del	XP_011536235.1:p.Ser1220TrpfsTer6
XM_011537934.1:c.3656_3657del	XP_011536236.1:p.Ser1219TrpfsTer6
XM_011537935.1:c.2603_2604del	XP_011536237.1:p.Ser868TrpfsTer6
XM_017018828.1:c.3659_3660del	XP_016874317.1:p.Ser1220TrpfsTer6
XM_017018829.1:c.3656_3657del	XP_016874318.1:p.Ser1219TrpfsTer6
XM_017018830.1:c.3449_3450del	XP_016874319.1:p.Ser1150TrpfsTer6
XM_017018831.2:c.2969_2970del	XP_016874320.1:p.Ser990TrpfsTer6
NM_001844.5:c.3515_3516del MANE Select	NP_001835.3:p.Ser1172TrpfsTer6
NM_033150.3:c.3308_3309del	NP_149162.2:p.Ser1103TrpfsTer6