Canonical Allele Identifier: CA384541175

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48372096A>C (hg19) ; chr12:g.47978313A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978313A>C , CM000674.2:g.47978313A>C	GRCh38
NC_000012.11:g.48372096A>C , CM000674.1:g.48372096A>C	GRCh37
NC_000012.10:g.46658363A>C	NCBI36
NG_008072.1:g.31190T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2774T>G	ENSP00000338213.6:p.Phe925Cys
ENST00000380518.8:c.2981T>G MANE Select	ENSP00000369889.3:p.Phe994Cys
ENST00000337299.6:c.2774T>G	ENSP00000338213.6:p.Phe925Cys
ENST00000380518.7:c.2981T>G	ENSP00000369889.3:p.Phe994Cys
ENST00000493991.5:n.2067T>G
NM_001844.4:c.2981T>G	NP_001835.3:p.Phe994Cys
NM_033150.2:c.2774T>G	NP_149162.2:p.Phe925Cys
XM_006719242.2:c.3125T>G	XP_006719305.2:p.Phe1042Cys
XM_011537928.1:c.3125T>G	XP_011536230.1:p.Phe1042Cys
XM_011537929.1:c.3125T>G	XP_011536231.1:p.Phe1042Cys
XM_011537930.1:c.3125T>G	XP_011536232.1:p.Phe1042Cys
XM_011537931.1:c.3125T>G	XP_011536233.1:p.Phe1042Cys
XM_011537932.1:c.3125T>G	XP_011536234.1:p.Phe1042Cys
XM_011537933.1:c.3125T>G	XP_011536235.1:p.Phe1042Cys
XM_011537934.1:c.3122T>G	XP_011536236.1:p.Phe1041Cys
XM_011537935.1:c.2069T>G	XP_011536237.1:p.Phe690Cys
XM_017018828.1:c.3125T>G	XP_016874317.1:p.Phe1042Cys
XM_017018829.1:c.3122T>G	XP_016874318.1:p.Phe1041Cys
XM_017018830.1:c.2915T>G	XP_016874319.1:p.Phe972Cys
XM_017018831.2:c.2435T>G	XP_016874320.1:p.Phe812Cys
NM_001844.5:c.2981T>G MANE Select	NP_001835.3:p.Phe994Cys
NM_033150.3:c.2774T>G	NP_149162.2:p.Phe925Cys