Canonical Allele Identifier: CA2618512127

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47977522-TGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977523_47977525del , CM000674.2:g.47977523_47977525del	GRCh38
NC_000012.11:g.48371306_48371308del , CM000674.1:g.48371306_48371308del	GRCh37
NC_000012.10:g.46657573_46657575del	NCBI36
NG_008072.1:g.31978_31980del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2958+75_2958+77del	ENSP00000338213.6:n.2958+75_2958+77del
ENST00000380518.8:c.3165+75_3165+77del MANE Select	ENSP00000369889.3:n.3165+75_3165+77del
ENST00000337299.6:c.2958+75_2958+77del	ENSP00000338213.6:n.2958+75_2958+77del
ENST00000380518.7:c.3165+75_3165+77del	ENSP00000369889.3:n.3165+75_3165+77del
ENST00000493991.5:n.2251+75_2251+77del
NM_001844.4:c.3165+75_3165+77del	NP_001835.3:n.3165+75_3165+77del
NM_033150.2:c.2958+75_2958+77del	NP_149162.2:n.2958+75_2958+77del
XM_006719242.2:c.3309+75_3309+77del	XP_006719305.2:n.3309+75_3309+77del
XM_011537928.1:c.3309+75_3309+77del	XP_011536230.1:n.3309+75_3309+77del
XM_011537929.1:c.3309+75_3309+77del	XP_011536231.1:n.3309+75_3309+77del
XM_011537930.1:c.3309+75_3309+77del	XP_011536232.1:n.3309+75_3309+77del
XM_011537931.1:c.3309+75_3309+77del	XP_011536233.1:n.3309+75_3309+77del
XM_011537932.1:c.3309+75_3309+77del	XP_011536234.1:n.3309+75_3309+77del
XM_011537933.1:c.3309+75_3309+77del	XP_011536235.1:n.3309+75_3309+77del
XM_011537934.1:c.3306+75_3306+77del	XP_011536236.1:n.3306+75_3306+77del
XM_011537935.1:c.2253+75_2253+77del	XP_011536237.1:n.2253+75_2253+77del
XM_017018828.1:c.3309+75_3309+77del	XP_016874317.1:n.3309+75_3309+77del
XM_017018829.1:c.3306+75_3306+77del	XP_016874318.1:n.3306+75_3306+77del
XM_017018830.1:c.3099+75_3099+77del	XP_016874319.1:n.3099+75_3099+77del
XM_017018831.2:c.2619+75_2619+77del	XP_016874320.1:n.2619+75_2619+77del
NM_001844.5:c.3165+75_3165+77del MANE Select	NP_001835.3:n.3165+75_3165+77del
NM_033150.3:c.2958+75_2958+77del	NP_149162.2:n.2958+75_2958+77del