Canonical Allele Identifier: CA2618500395

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47986210-G-GCTCCCATCCTTGGTTTGGCTAGTGTGAACAGTTGGATCTTTAGCCCCTCTCACTTCCCTCTGCCCTGCCATGGCTCGTCCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47986210_47986211insCTCCCATCCTTGGTTTGGCTAGTGTGAACAGTTGGATCTTTAGCCCCTCTCACTTCCCTCTGCCCTGCCATGGCTCGTCCTTT , CM000674.2:g.47986210_47986211insCTCCCATCCTTGGTTTGGCTAGTGTGAACAGTTGGATCTTTAGCCCCTCTCACTTCCCTCTGCCCTGCCATGGCTCGTCCTTT	GRCh38
NC_000012.11:g.48379993_48379994insCTCCCATCCTTGGTTTGGCTAGTGTGAACAGTTGGATCTTTAGCCCCTCTCACTTCCCTCTGCCCTGCCATGGCTCGTCCTTT , CM000674.1:g.48379993_48379994insCTCCCATCCTTGGTTTGGCTAGTGTGAACAGTTGGATCTTTAGCCCCTCTCACTTCCCTCTGCCCTGCCATGGCTCGTCCTTT	GRCh37
NC_000012.10:g.46666260_46666261insCTCCCATCCTTGGTTTGGCTAGTGTGAACAGTTGGATCTTTAGCCCCTCTCACTTCCCTCTGCCCTGCCATGGCTCGTCCTTT	NCBI36
NG_008072.1:g.23292_23293insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1320+125_1320+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	ENSP00000338213.6:n.1320+125_1320+126insAAAGGACGAGCCATGGCAGGG...
ENST00000380518.8:c.1527+125_1527+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG MANE Select	ENSP00000369889.3:n.1527+125_1527+126insAAAGGACGAGCCATGGCAGGG...
ENST00000337299.6:c.1320+125_1320+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	ENSP00000338213.6:n.1320+125_1320+126insAAAGGACGAGCCATGGCAGGG...
ENST00000380518.7:c.1527+125_1527+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	ENSP00000369889.3:n.1527+125_1527+126insAAAGGACGAGCCATGGCAGGG...
ENST00000493991.5:n.451+125_451+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG
NM_001844.4:c.1527+125_1527+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	NP_001835.3:n.1527+125_1527+126insAAAGGACGAGCCATGGCAGGGCAGAGG...
NM_033150.2:c.1320+125_1320+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	NP_149162.2:n.1320+125_1320+126insAAAGGACGAGCCATGGCAGGGCAGAGG...
XM_006719242.2:c.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_006719305.2:n.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_011537928.1:c.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_011536230.1:n.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_011537929.1:c.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_011536231.1:n.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_011537930.1:c.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_011536232.1:n.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_011537931.1:c.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_011536233.1:n.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_011537932.1:c.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_011536234.1:n.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_011537933.1:c.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_011536235.1:n.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_011537934.1:c.1668+125_1668+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_011536236.1:n.1668+125_1668+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_011537935.1:c.615+125_615+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_011536237.1:n.615+125_615+126insAAAGGACGAGCCATGGCAGGGCAGAG...
XM_017018828.1:c.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_016874317.1:n.1671+125_1671+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_017018829.1:c.1668+125_1668+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_016874318.1:n.1668+125_1668+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_017018830.1:c.1461+125_1461+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_016874319.1:n.1461+125_1461+126insAAAGGACGAGCCATGGCAGGGCAG...
XM_017018831.2:c.981+125_981+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	XP_016874320.1:n.981+125_981+126insAAAGGACGAGCCATGGCAGGGCAGAG...
NM_001844.5:c.1527+125_1527+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG MANE Select	NP_001835.3:n.1527+125_1527+126insAAAGGACGAGCCATGGCAGGGCAGAGG...
NM_033150.3:c.1320+125_1320+126insAAAGGACGAGCCATGGCAGGGCAGAGGGAAGTGAGAGGGGCTAAAGATCCAACTGTTCACACTAGCCAAACCAAGGATGGGAG	NP_149162.2:n.1320+125_1320+126insAAAGGACGAGCCATGGCAGGGCAGAGG...