Canonical Allele Identifier: CA384525996

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48393750A>T (hg19) ; chr12:g.47999967A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47999967A>T , CM000674.2:g.47999967A>T	GRCh38
NC_000012.11:g.48393750A>T , CM000674.1:g.48393750A>T	GRCh37
NC_000012.10:g.46680017A>T	NCBI36
NG_008072.1:g.9536T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.86-1536T>A	ENSP00000338213.6:n.86-1536T>A
ENST00000380518.8:c.244T>A MANE Select	ENSP00000369889.3:p.Phe82Ile
ENST00000490609.2:n.477T>A
ENST00000337299.6:c.86-1536T>A	ENSP00000338213.6:n.86-1536T>A
ENST00000380518.7:c.244T>A	ENSP00000369889.3:p.Phe82Ile
ENST00000474996.6:n.482T>A
ENST00000490609.1:n.409T>A
NM_001844.4:c.244T>A	NP_001835.3:p.Phe82Ile
NM_033150.2:c.86-1536T>A	NP_149162.2:n.86-1536T>A
XM_006719242.2:c.385T>A	XP_006719305.2:p.Phe129Ile
XM_011537928.1:c.385T>A	XP_011536230.1:p.Phe129Ile
XM_011537929.1:c.385T>A	XP_011536231.1:p.Phe129Ile
XM_011537930.1:c.385T>A	XP_011536232.1:p.Phe129Ile
XM_011537931.1:c.385T>A	XP_011536233.1:p.Phe129Ile
XM_011537932.1:c.385T>A	XP_011536234.1:p.Phe129Ile
XM_011537933.1:c.385T>A	XP_011536235.1:p.Phe129Ile
XM_011537934.1:c.385T>A	XP_011536236.1:p.Phe129Ile
XM_017018828.1:c.385T>A	XP_016874317.1:p.Phe129Ile
XM_017018829.1:c.385T>A	XP_016874318.1:p.Phe129Ile
XM_017018830.1:c.227-1536T>A	XP_016874319.1:n.227-1536T>A
XM_017018831.2:c.-303T>A	XP_016874320.1:n.-303T>A
NM_001844.5:c.244T>A MANE Select	NP_001835.3:p.Phe82Ile
NM_033150.3:c.86-1536T>A	NP_149162.2:n.86-1536T>A