Canonical Allele Identifier: CA2618516221

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47995860-A-AGATACTTACAGGAGCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995860_47995861insGATACTTACAGGAGCAC , CM000674.2:g.47995860_47995861insGATACTTACAGGAGCAC	GRCh38
NC_000012.11:g.48389643_48389644insGATACTTACAGGAGCAC , CM000674.1:g.48389643_48389644insGATACTTACAGGAGCAC	GRCh37
NC_000012.10:g.46675910_46675911insGATACTTACAGGAGCAC	NCBI36
NG_008072.1:g.13642_13643insGTGCTCCTGTAAGTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.447+14_447+15insGTGCTCCTGTAAGTATC	ENSP00000338213.6:n.447+14_447+15insGTGCTCCTGTAAGTATC
ENST00000380518.8:c.654+14_654+15insGTGCTCCTGTAAGTATC MANE Select	ENSP00000369889.3:n.654+14_654+15insGTGCTCCTGTAAGTATC
ENST00000337299.6:c.447+14_447+15insGTGCTCCTGTAAGTATC	ENSP00000338213.6:n.447+14_447+15insGTGCTCCTGTAAGTATC
ENST00000380518.7:c.654+14_654+15insGTGCTCCTGTAAGTATC	ENSP00000369889.3:n.654+14_654+15insGTGCTCCTGTAAGTATC
NM_001844.4:c.654+14_654+15insGTGCTCCTGTAAGTATC	NP_001835.3:n.654+14_654+15insGTGCTCCTGTAAGTATC
NM_033150.2:c.447+14_447+15insGTGCTCCTGTAAGTATC	NP_149162.2:n.447+14_447+15insGTGCTCCTGTAAGTATC
XM_006719242.2:c.798+14_798+15insGTGCTCCTGTAAGTATC	XP_006719305.2:n.798+14_798+15insGTGCTCCTGTAAGTATC
XM_011537928.1:c.798+14_798+15insGTGCTCCTGTAAGTATC	XP_011536230.1:n.798+14_798+15insGTGCTCCTGTAAGTATC
XM_011537929.1:c.798+14_798+15insGTGCTCCTGTAAGTATC	XP_011536231.1:n.798+14_798+15insGTGCTCCTGTAAGTATC
XM_011537930.1:c.798+14_798+15insGTGCTCCTGTAAGTATC	XP_011536232.1:n.798+14_798+15insGTGCTCCTGTAAGTATC
XM_011537931.1:c.798+14_798+15insGTGCTCCTGTAAGTATC	XP_011536233.1:n.798+14_798+15insGTGCTCCTGTAAGTATC
XM_011537932.1:c.798+14_798+15insGTGCTCCTGTAAGTATC	XP_011536234.1:n.798+14_798+15insGTGCTCCTGTAAGTATC
XM_011537933.1:c.798+14_798+15insGTGCTCCTGTAAGTATC	XP_011536235.1:n.798+14_798+15insGTGCTCCTGTAAGTATC
XM_011537934.1:c.795+14_795+15insGTGCTCCTGTAAGTATC	XP_011536236.1:n.795+14_795+15insGTGCTCCTGTAAGTATC
XM_017018828.1:c.798+14_798+15insGTGCTCCTGTAAGTATC	XP_016874317.1:n.798+14_798+15insGTGCTCCTGTAAGTATC
XM_017018829.1:c.795+14_795+15insGTGCTCCTGTAAGTATC	XP_016874318.1:n.795+14_795+15insGTGCTCCTGTAAGTATC
XM_017018830.1:c.588+14_588+15insGTGCTCCTGTAAGTATC	XP_016874319.1:n.588+14_588+15insGTGCTCCTGTAAGTATC
XM_017018831.2:c.108+14_108+15insGTGCTCCTGTAAGTATC	XP_016874320.1:n.108+14_108+15insGTGCTCCTGTAAGTATC
NM_001844.5:c.654+14_654+15insGTGCTCCTGTAAGTATC MANE Select	NP_001835.3:n.654+14_654+15insGTGCTCCTGTAAGTATC
NM_033150.3:c.447+14_447+15insGTGCTCCTGTAAGTATC	NP_149162.2:n.447+14_447+15insGTGCTCCTGTAAGTATC