Canonical Allele Identifier: CA604848349

Gene: COL2A1

Linked Data

• gnomAD v2: 12-48369717-G-GACAGCAGGGAAGGAGTCAGGACACTT
• gnomAD v4: 12-47975934-G-GACAGCAGGGAAGGAGTCAGGACACTT
• MyVariant Identifiers: chr12:g.48369717_48369718insACAGCAGGGAAGGAGTCAGGACACTT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975944_47975969dup , CM000674.2:g.47975944_47975969dup	GRCh38
NC_000012.11:g.48369727_48369752dup , CM000674.1:g.48369727_48369752dup	GRCh37
NC_000012.10:g.46655994_46656019dup	NCBI36
NG_008072.1:g.33543_33568dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3390+3_3390+28dup
ENST00000380518.8:c.3597+3_3597+28dup
ENST00000337299.6:c.3390+3_3390+28dup
ENST00000380518.7:c.3597+3_3597+28dup
ENST00000493991.5:n.2683+3_2683+28dup
ENST00000546974.1:n.450+3_450+28dup
NM_001844.4:c.3597+3_3597+28dup
NM_033150.2:c.3390+3_3390+28dup
XM_006719242.2:c.3741+3_3741+28dup
XM_011537928.1:c.3741+3_3741+28dup
XM_011537929.1:c.3741+3_3741+28dup
XM_011537930.1:c.3741+3_3741+28dup
XM_011537931.1:c.3741+3_3741+28dup
XM_011537932.1:c.3741+3_3741+28dup
XM_011537933.1:c.3741+3_3741+28dup
XM_011537934.1:c.3738+3_3738+28dup
XM_011537935.1:c.2685+3_2685+28dup
XM_017018828.1:c.3741+3_3741+28dup
XM_017018829.1:c.3738+3_3738+28dup
XM_017018830.1:c.3531+3_3531+28dup
XM_017018831.2:c.3051+3_3051+28dup
NM_001844.5:c.3597+3_3597+28dup
NM_033150.3:c.3390+3_3390+28dup