Canonical Allele Identifier: CA2580085592

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47982866_47982874del , CM000674.2:g.47982866_47982874del	GRCh38
NC_000012.11:g.48376649_48376657del , CM000674.1:g.48376649_48376657del	GRCh37
NC_000012.10:g.46662916_46662924del	NCBI36
NG_008072.1:g.26635_26643del

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.2173_2181del MANE Select	NP_001835.3:p.Pro725_Thr727del
ENST00000380518.8:c.2173_2181del MANE Select	ENSP00000369889.3:p.Pro725_Thr727del
NM_001844.4:c.2173_2181del	NP_001835.3:p.Pro725_Thr727del
NM_033150.2:c.1966_1974del	NP_149162.2:p.Pro656_Thr658del
NM_033150.3:c.1966_1974del	NP_149162.2:p.Pro656_Thr658del
ENST00000337299.6:c.1966_1974del	ENSP00000338213.6:p.Pro656_Thr658del
ENST00000337299.7:c.1966_1974del	ENSP00000338213.6:p.Pro656_Thr658del
ENST00000380518.7:c.2173_2181del	ENSP00000369889.3:p.Pro725_Thr727del
ENST00000483376.1:n.351_359del
ENST00000493991.5:n.1097_1105del
XM_006719242.2:c.2317_2325del	XP_006719305.2:p.Pro773_Thr775del
XM_011537928.1:c.2317_2325del	XP_011536230.1:p.Pro773_Thr775del
XM_011537929.1:c.2317_2325del	XP_011536231.1:p.Pro773_Thr775del
XM_011537930.1:c.2317_2325del	XP_011536232.1:p.Pro773_Thr775del
XM_011537931.1:c.2317_2325del	XP_011536233.1:p.Pro773_Thr775del
XM_011537932.1:c.2317_2325del	XP_011536234.1:p.Pro773_Thr775del
XM_011537933.1:c.2317_2325del	XP_011536235.1:p.Pro773_Thr775del
XM_011537934.1:c.2314_2322del	XP_011536236.1:p.Pro772_Thr774del
XM_011537935.1:c.1261_1269del	XP_011536237.1:p.Pro421_Thr423del
XM_017018828.1:c.2317_2325del	XP_016874317.1:p.Pro773_Thr775del
XM_017018829.1:c.2314_2322del	XP_016874318.1:p.Pro772_Thr774del
XM_017018830.1:c.2107_2115del	XP_016874319.1:p.Pro703_Thr705del
XM_017018831.2:c.1627_1635del	XP_016874320.1:p.Pro543_Thr545del
XR_944910.1:n.338_346del