Canonical Allele Identifier: CA2618516022

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2856270
• ClinVar RCV Id: RCV003696353
• gnomAD v4: 12-47995714-A-ACACCAGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995731_47995739dup , CM000674.2:g.47995731_47995739dup	GRCh38
NC_000012.11:g.48389514_48389522dup , CM000674.1:g.48389514_48389522dup	GRCh37
NC_000012.10:g.46675781_46675789dup	NCBI36
NG_008072.1:g.13780_13788dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.488_496dup	ENSP00000338213.6:p.Gly165_Val166insGluProGly
ENST00000380518.8:c.695_703dup MANE Select	ENSP00000369889.3:p.Gly234_Val235insGluProGly
ENST00000337299.6:c.488_496dup	ENSP00000338213.6:p.Gly165_Val166insGluProGly
ENST00000380518.7:c.695_703dup	ENSP00000369889.3:p.Gly234_Val235insGluProGly
NM_001844.4:c.695_703dup	NP_001835.3:p.Gly234_Val235insGluProGly
NM_033150.2:c.488_496dup	NP_149162.2:p.Gly165_Val166insGluProGly
XM_006719242.2:c.839_847dup	XP_006719305.2:p.Gly282_Val283insGluProGly
XM_011537928.1:c.839_847dup	XP_011536230.1:p.Gly282_Val283insGluProGly
XM_011537929.1:c.839_847dup	XP_011536231.1:p.Gly282_Val283insGluProGly
XM_011537930.1:c.839_847dup	XP_011536232.1:p.Gly282_Val283insGluProGly
XM_011537931.1:c.839_847dup	XP_011536233.1:p.Gly282_Val283insGluProGly
XM_011537932.1:c.839_847dup	XP_011536234.1:p.Gly282_Val283insGluProGly
XM_011537933.1:c.839_847dup	XP_011536235.1:p.Gly282_Val283insGluProGly
XM_011537934.1:c.836_844dup	XP_011536236.1:p.Gly281_Val282insGluProGly
XM_017018828.1:c.839_847dup	XP_016874317.1:p.Gly282_Val283insGluProGly
XM_017018829.1:c.836_844dup	XP_016874318.1:p.Gly281_Val282insGluProGly
XM_017018830.1:c.629_637dup	XP_016874319.1:p.Gly212_Val213insGluProGly
XM_017018831.2:c.149_157dup	XP_016874320.1:p.Gly52_Val53insGluProGly
NM_001844.5:c.695_703dup MANE Select	NP_001835.3:p.Gly234_Val235insGluProGly
NM_033150.3:c.488_496dup	NP_149162.2:p.Gly165_Val166insGluProGly