Canonical Allele Identifier: CA6536066

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 2720021
• ClinVar RCV Id: RCV003546300
• dbSNP Id: rs760745824
• ExAC: 12:48393732 T / A
• gnomAD v2: 12-48393732-T-A
• gnomAD v3: 12-47999949-T-A
• gnomAD v4: 12-47999949-T-A
• MyVariant Identifiers: chr12:g.48393732T>A (hg19) ; chr12:g.47999949T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47999949T>A , CM000674.2:g.47999949T>A	GRCh38
NC_000012.11:g.48393732T>A , CM000674.1:g.48393732T>A	GRCh37
NC_000012.10:g.46679999T>A	NCBI36
NG_008072.1:g.9554A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.86-1518A>T	ENSP00000338213.6:n.86-1518A>T
ENST00000380518.8:c.262A>T MANE Select	ENSP00000369889.3:p.Ile88Phe
ENST00000490609.2:n.495A>T
ENST00000337299.6:c.86-1518A>T	ENSP00000338213.6:n.86-1518A>T
ENST00000380518.7:c.262A>T	ENSP00000369889.3:p.Ile88Phe
ENST00000474996.6:n.500A>T
ENST00000490609.1:n.427A>T
NM_001844.4:c.262A>T	NP_001835.3:p.Ile88Phe
NM_033150.2:c.86-1518A>T	NP_149162.2:n.86-1518A>T
XM_006719242.2:c.403A>T	XP_006719305.2:p.Ile135Phe
XM_011537928.1:c.403A>T	XP_011536230.1:p.Ile135Phe
XM_011537929.1:c.403A>T	XP_011536231.1:p.Ile135Phe
XM_011537930.1:c.403A>T	XP_011536232.1:p.Ile135Phe
XM_011537931.1:c.403A>T	XP_011536233.1:p.Ile135Phe
XM_011537932.1:c.403A>T	XP_011536234.1:p.Ile135Phe
XM_011537933.1:c.403A>T	XP_011536235.1:p.Ile135Phe
XM_011537934.1:c.403A>T	XP_011536236.1:p.Ile135Phe
XM_017018828.1:c.403A>T	XP_016874317.1:p.Ile135Phe
XM_017018829.1:c.403A>T	XP_016874318.1:p.Ile135Phe
XM_017018830.1:c.227-1518A>T	XP_016874319.1:n.227-1518A>T
XM_017018831.2:c.-285A>T	XP_016874320.1:n.-285A>T
NM_001844.5:c.262A>T MANE Select	NP_001835.3:p.Ile88Phe
NM_033150.3:c.86-1518A>T	NP_149162.2:n.86-1518A>T