Canonical Allele Identifier: CA384523652

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47995723-T-C
• MyVariant Identifiers: chr12:g.48389506T>C (hg19) ; chr12:g.47995723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47995723T>C , CM000674.2:g.47995723T>C	GRCh38
NC_000012.11:g.48389506T>C , CM000674.1:g.48389506T>C	GRCh37
NC_000012.10:g.46675773T>C	NCBI36
NG_008072.1:g.13780A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.488A>G	ENSP00000338213.6:p.Glu163Gly
ENST00000380518.8:c.695A>G MANE Select	ENSP00000369889.3:p.Glu232Gly
ENST00000337299.6:c.488A>G	ENSP00000338213.6:p.Glu163Gly
ENST00000380518.7:c.695A>G	ENSP00000369889.3:p.Glu232Gly
NM_001844.4:c.695A>G	NP_001835.3:p.Glu232Gly
NM_033150.2:c.488A>G	NP_149162.2:p.Glu163Gly
XM_006719242.2:c.839A>G	XP_006719305.2:p.Glu280Gly
XM_011537928.1:c.839A>G	XP_011536230.1:p.Glu280Gly
XM_011537929.1:c.839A>G	XP_011536231.1:p.Glu280Gly
XM_011537930.1:c.839A>G	XP_011536232.1:p.Glu280Gly
XM_011537931.1:c.839A>G	XP_011536233.1:p.Glu280Gly
XM_011537932.1:c.839A>G	XP_011536234.1:p.Glu280Gly
XM_011537933.1:c.839A>G	XP_011536235.1:p.Glu280Gly
XM_011537934.1:c.836A>G	XP_011536236.1:p.Glu279Gly
XM_017018828.1:c.839A>G	XP_016874317.1:p.Glu280Gly
XM_017018829.1:c.836A>G	XP_016874318.1:p.Glu279Gly
XM_017018830.1:c.629A>G	XP_016874319.1:p.Glu210Gly
XM_017018831.2:c.149A>G	XP_016874320.1:p.Glu50Gly
NM_001844.5:c.695A>G MANE Select	NP_001835.3:p.Glu232Gly
NM_033150.3:c.488A>G	NP_149162.2:p.Glu163Gly