Canonical Allele Identifier: CA6534446

Gene: COL2A1

Linked Data

• dbSNP Id: rs749308766
• ExAC: 12:48367179 G / C
• gnomAD v2: 12-48367179-G-C
• gnomAD v4: 12-47973396-G-C
• MyVariant Identifiers: chr12:g.48367179G>C (hg19) ; chr12:g.47973396G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47973396G>C , CM000674.2:g.47973396G>C	GRCh38
NC_000012.11:g.48367179G>C , CM000674.1:g.48367179G>C	GRCh37
NC_000012.10:g.46653446G>C	NCBI36
NG_008072.1:g.36107C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380518.8:c.*11C>G MANE Select	ENSP00000369889.3:n.*11C>G
ENST00000380518.7:c.*11C>G	ENSP00000369889.3:n.*11C>G
ENST00000493991.5:n.3561C>G
NM_001844.4:c.*11C>G	NP_001835.3:n.*11C>G
NM_033150.2:c.*11C>G	NP_149162.2:n.*11C>G
XM_006719242.2:c.*11C>G	XP_006719305.2:n.*11C>G
XM_011537928.1:c.*11C>G	XP_011536230.1:n.*11C>G
XM_011537929.1:c.*11C>G	XP_011536231.1:n.*11C>G
XM_011537930.1:c.*11C>G	XP_011536232.1:n.*11C>G
XM_011537931.1:c.*11C>G	XP_011536233.1:n.*11C>G
XM_011537932.1:c.*11C>G	XP_011536234.1:n.*11C>G
XM_011537933.1:c.*11C>G	XP_011536235.1:n.*11C>G
XM_011537934.1:c.*11C>G	XP_011536236.1:n.*11C>G
XM_011537935.1:c.*11C>G	XP_011536237.1:n.*11C>G
XM_017018828.1:c.*11C>G	XP_016874317.1:n.*11C>G
XM_017018829.1:c.*11C>G	XP_016874318.1:n.*11C>G
XM_017018830.1:c.*11C>G	XP_016874319.1:n.*11C>G
XM_017018831.2:c.*11C>G	XP_016874320.1:n.*11C>G
NM_001844.5:c.*11C>G MANE Select	NP_001835.3:n.*11C>G
NM_033150.3:c.*11C>G	NP_149162.2:n.*11C>G