Canonical Allele Identifier: CA2618516228

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47995862-T-TGCAGGTGCTCCTGTAAGTATCTGCAAGTCTTTTTGCCTCCATCGTGTC

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995866_47995867insGTGCTCCTGTAAGTATCTGCAAGTCTTTTTGCCTCCATCGTGTCGCAG , CM000674.2:g.47995866_47995867insGTGCTCCTGTAAGTATCTGCAAGTCTTTTTGCCTCCATCGTGTCGCAG	GRCh38
NC_000012.11:g.48389649_48389650insGTGCTCCTGTAAGTATCTGCAAGTCTTTTTGCCTCCATCGTGTCGCAG , CM000674.1:g.48389649_48389650insGTGCTCCTGTAAGTATCTGCAAGTCTTTTTGCCTCCATCGTGTCGCAG	GRCh37
NC_000012.10:g.46675916_46675917insGTGCTCCTGTAAGTATCTGCAAGTCTTTTTGCCTCCATCGTGTCGCAG	NCBI36
NG_008072.1:g.13640_13641insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.447+12_447+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	ENSP00000338213.6:n.447+12_447+13insGACACGATGGAGGCAAAAAGACTTG...
ENST00000380518.8:c.654+12_654+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC MANE Select	ENSP00000369889.3:n.654+12_654+13insGACACGATGGAGGCAAAAAGACTTG...
ENST00000337299.6:c.447+12_447+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	ENSP00000338213.6:n.447+12_447+13insGACACGATGGAGGCAAAAAGACTTG...
ENST00000380518.7:c.654+12_654+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	ENSP00000369889.3:n.654+12_654+13insGACACGATGGAGGCAAAAAGACTTG...
NM_001844.4:c.654+12_654+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	NP_001835.3:n.654+12_654+13insGACACGATGGAGGCAAAAAGACTTGCAGATA...
NM_033150.2:c.447+12_447+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	NP_149162.2:n.447+12_447+13insGACACGATGGAGGCAAAAAGACTTGCAGATA...
XM_006719242.2:c.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_006719305.2:n.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_011537928.1:c.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_011536230.1:n.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_011537929.1:c.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_011536231.1:n.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_011537930.1:c.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_011536232.1:n.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_011537931.1:c.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_011536233.1:n.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_011537932.1:c.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_011536234.1:n.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_011537933.1:c.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_011536235.1:n.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_011537934.1:c.795+12_795+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_011536236.1:n.795+12_795+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_017018828.1:c.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_016874317.1:n.798+12_798+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_017018829.1:c.795+12_795+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_016874318.1:n.795+12_795+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_017018830.1:c.588+12_588+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_016874319.1:n.588+12_588+13insGACACGATGGAGGCAAAAAGACTTGCAG...
XM_017018831.2:c.108+12_108+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	XP_016874320.1:n.108+12_108+13insGACACGATGGAGGCAAAAAGACTTGCAG...
NM_001844.5:c.654+12_654+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC MANE Select	NP_001835.3:n.654+12_654+13insGACACGATGGAGGCAAAAAGACTTGCAGATA...
NM_033150.3:c.447+12_447+13insGACACGATGGAGGCAAAAAGACTTGCAGATACTTACAGGAGCACCTGC	NP_149162.2:n.447+12_447+13insGACACGATGGAGGCAAAAAGACTTGCAGATA...