Canonical Allele Identifier: CA384536971

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48369317A>C (hg19) ; chr12:g.47975534A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47975534A>C , CM000674.2:g.47975534A>C	GRCh38
NC_000012.11:g.48369317A>C , CM000674.1:g.48369317A>C	GRCh37
NC_000012.10:g.46655584A>C	NCBI36
NG_008072.1:g.33969T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3462T>G	ENSP00000338213.6:p.Phe1154Leu
ENST00000380518.8:c.3669T>G MANE Select	ENSP00000369889.3:p.Phe1223Leu
ENST00000337299.6:c.3462T>G	ENSP00000338213.6:p.Phe1154Leu
ENST00000380518.7:c.3669T>G	ENSP00000369889.3:p.Phe1223Leu
ENST00000493991.5:n.2755T>G
ENST00000546974.1:n.522T>G
NM_001844.4:c.3669T>G	NP_001835.3:p.Phe1223Leu
NM_033150.2:c.3462T>G	NP_149162.2:p.Phe1154Leu
XM_006719242.2:c.3813T>G	XP_006719305.2:p.Phe1271Leu
XM_011537928.1:c.3813T>G	XP_011536230.1:p.Phe1271Leu
XM_011537929.1:c.3813T>G	XP_011536231.1:p.Phe1271Leu
XM_011537930.1:c.3813T>G	XP_011536232.1:p.Phe1271Leu
XM_011537931.1:c.3813T>G	XP_011536233.1:p.Phe1271Leu
XM_011537932.1:c.3813T>G	XP_011536234.1:p.Phe1271Leu
XM_011537933.1:c.3813T>G	XP_011536235.1:p.Phe1271Leu
XM_011537934.1:c.3810T>G	XP_011536236.1:p.Phe1270Leu
XM_011537935.1:c.2757T>G	XP_011536237.1:p.Phe919Leu
XM_017018828.1:c.3813T>G	XP_016874317.1:p.Phe1271Leu
XM_017018829.1:c.3810T>G	XP_016874318.1:p.Phe1270Leu
XM_017018830.1:c.3603T>G	XP_016874319.1:p.Phe1201Leu
XM_017018831.2:c.3123T>G	XP_016874320.1:p.Phe1041Leu
NM_001844.5:c.3669T>G MANE Select	NP_001835.3:p.Phe1223Leu
NM_033150.3:c.3462T>G	NP_149162.2:p.Phe1154Leu