Canonical Allele Identifier: CA2618508348

Gene: COL2A1

Linked Data

• gnomAD v4: 12-48000049-G-GATCC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.48000050_48000053dup , CM000674.2:g.48000050_48000053dup	GRCh38
NC_000012.11:g.48393833_48393836dup , CM000674.1:g.48393833_48393836dup	GRCh37
NC_000012.10:g.46680100_46680103dup	NCBI36
NG_008072.1:g.9450_9453dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.86-1622_86-1619dup	ENSP00000338213.6:n.86-1622_86-1619dup
ENST00000380518.8:c.158_161dup MANE Select	ENSP00000369889.3:p.Ile54MetfsTer6
ENST00000490609.2:n.391_394dup
ENST00000337299.6:c.86-1622_86-1619dup	ENSP00000338213.6:n.86-1622_86-1619dup
ENST00000380518.7:c.158_161dup	ENSP00000369889.3:p.Ile54MetfsTer6
ENST00000474996.6:n.396_399dup
ENST00000490609.1:n.323_326dup
NM_001844.4:c.158_161dup	NP_001835.3:p.Ile54MetfsTer6
NM_033150.2:c.86-1622_86-1619dup	NP_149162.2:n.86-1622_86-1619dup
XM_006719242.2:c.299_302dup	XP_006719305.2:p.Ile101MetfsTer6
XM_011537928.1:c.299_302dup	XP_011536230.1:p.Ile101MetfsTer6
XM_011537929.1:c.299_302dup	XP_011536231.1:p.Ile101MetfsTer6
XM_011537930.1:c.299_302dup	XP_011536232.1:p.Ile101MetfsTer6
XM_011537931.1:c.299_302dup	XP_011536233.1:p.Ile101MetfsTer6
XM_011537932.1:c.299_302dup	XP_011536234.1:p.Ile101MetfsTer6
XM_011537933.1:c.299_302dup	XP_011536235.1:p.Ile101MetfsTer6
XM_011537934.1:c.299_302dup	XP_011536236.1:p.Ile101MetfsTer6
XM_017018828.1:c.299_302dup	XP_016874317.1:p.Ile101MetfsTer6
XM_017018829.1:c.299_302dup	XP_016874318.1:p.Ile101MetfsTer6
XM_017018830.1:c.227-1622_227-1619dup	XP_016874319.1:n.227-1622_227-1619dup
XM_017018831.2:c.-389_-386dup	XP_016874320.1:n.-389_-386dup
NM_001844.5:c.158_161dup MANE Select	NP_001835.3:p.Ile54MetfsTer6
NM_033150.3:c.86-1622_86-1619dup	NP_149162.2:n.86-1622_86-1619dup