Canonical Allele Identifier: CA2618516297

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47995894-GGAGGTCCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995902_47995910del , CM000674.2:g.47995902_47995910del	GRCh38
NC_000012.11:g.48389685_48389693del , CM000674.1:g.48389685_48389693del	GRCh37
NC_000012.10:g.46675952_46675960del	NCBI36
NG_008072.1:g.13600_13608del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.419_427del	ENSP00000338213.6:p.Arg140_Pro142del
ENST00000380518.8:c.626_634del MANE Select	ENSP00000369889.3:p.Arg209_Pro211del
ENST00000337299.6:c.419_427del	ENSP00000338213.6:p.Arg140_Pro142del
ENST00000380518.7:c.626_634del	ENSP00000369889.3:p.Arg209_Pro211del
NM_001844.4:c.626_634del	NP_001835.3:p.Arg209_Pro211del
NM_033150.2:c.419_427del	NP_149162.2:p.Arg140_Pro142del
XM_006719242.2:c.770_778del	XP_006719305.2:p.Arg257_Pro259del
XM_011537928.1:c.770_778del	XP_011536230.1:p.Arg257_Pro259del
XM_011537929.1:c.770_778del	XP_011536231.1:p.Arg257_Pro259del
XM_011537930.1:c.770_778del	XP_011536232.1:p.Arg257_Pro259del
XM_011537931.1:c.770_778del	XP_011536233.1:p.Arg257_Pro259del
XM_011537932.1:c.770_778del	XP_011536234.1:p.Arg257_Pro259del
XM_011537933.1:c.770_778del	XP_011536235.1:p.Arg257_Pro259del
XM_011537934.1:c.767_775del	XP_011536236.1:p.Arg256_Pro258del
XM_017018828.1:c.770_778del	XP_016874317.1:p.Arg257_Pro259del
XM_017018829.1:c.767_775del	XP_016874318.1:p.Arg256_Pro258del
XM_017018830.1:c.560_568del	XP_016874319.1:p.Arg187_Pro189del
XM_017018831.2:c.80_88del	XP_016874320.1:p.Arg27_Pro29del
NM_001844.5:c.626_634del MANE Select	NP_001835.3:p.Arg209_Pro211del
NM_033150.3:c.419_427del	NP_149162.2:p.Arg140_Pro142del