Canonical Allele Identifier: CA2795864053

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977379_47977380del , CM000674.2:g.47977379_47977380del	GRCh38
NC_000012.11:g.48371162_48371163del , CM000674.1:g.48371162_48371163del	GRCh37
NC_000012.10:g.46657429_46657430del	NCBI36
NG_008072.1:g.32123_32124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3006_3007del	ENSP00000338213.6:p.Pro1004TrpfsTer?
ENST00000380518.8:c.3213_3214del MANE Select	ENSP00000369889.3:p.Pro1073TrpfsTer?
ENST00000337299.6:c.3006_3007del	ENSP00000338213.6:p.Pro1004TrpfsTer?
ENST00000380518.7:c.3213_3214del	ENSP00000369889.3:p.Pro1073TrpfsTer?
ENST00000493991.5:n.2299_2300del
ENST00000546974.1:n.66_67del
NM_001844.4:c.3213_3214del	NP_001835.3:p.Pro1073TrpfsTer?
NM_033150.2:c.3006_3007del	NP_149162.2:p.Pro1004TrpfsTer?
XM_006719242.2:c.3357_3358del	XP_006719305.2:p.Pro1121TrpfsTer?
XM_011537928.1:c.3357_3358del	XP_011536230.1:p.Pro1121TrpfsTer?
XM_011537929.1:c.3357_3358del	XP_011536231.1:p.Pro1121TrpfsTer?
XM_011537930.1:c.3357_3358del	XP_011536232.1:p.Pro1121TrpfsTer?
XM_011537931.1:c.3357_3358del	XP_011536233.1:p.Pro1121TrpfsTer?
XM_011537932.1:c.3357_3358del	XP_011536234.1:p.Pro1121TrpfsTer?
XM_011537933.1:c.3357_3358del	XP_011536235.1:p.Pro1121TrpfsTer?
XM_011537934.1:c.3354_3355del	XP_011536236.1:p.Pro1120TrpfsTer?
XM_011537935.1:c.2301_2302del	XP_011536237.1:p.Pro769TrpfsTer?
XM_017018828.1:c.3357_3358del	XP_016874317.1:p.Pro1121TrpfsTer?
XM_017018829.1:c.3354_3355del	XP_016874318.1:p.Pro1120TrpfsTer?
XM_017018830.1:c.3147_3148del	XP_016874319.1:p.Pro1051TrpfsTer?
XM_017018831.2:c.2667_2668del	XP_016874320.1:p.Pro891TrpfsTer?
NM_001844.5:c.3213_3214del MANE Select	NP_001835.3:p.Pro1073TrpfsTer?
NM_033150.3:c.3006_3007del	NP_149162.2:p.Pro1004TrpfsTer?