Canonical Allele Identifier: CA384541138

Gene: COL2A1

Linked Data

• MyVariant Identifiers: chr12:g.48372087A>T (hg19) ; chr12:g.47978304A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978304A>T , CM000674.2:g.47978304A>T	GRCh38
NC_000012.11:g.48372087A>T , CM000674.1:g.48372087A>T	GRCh37
NC_000012.10:g.46658354A>T	NCBI36
NG_008072.1:g.31199T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2783T>A	ENSP00000338213.6:p.Leu928Ter
ENST00000380518.8:c.2990T>A MANE Select	ENSP00000369889.3:p.Leu997Ter
ENST00000337299.6:c.2783T>A	ENSP00000338213.6:p.Leu928Ter
ENST00000380518.7:c.2990T>A	ENSP00000369889.3:p.Leu997Ter
ENST00000493991.5:n.2076T>A
NM_001844.4:c.2990T>A	NP_001835.3:p.Leu997Ter
NM_033150.2:c.2783T>A	NP_149162.2:p.Leu928Ter
XM_006719242.2:c.3134T>A	XP_006719305.2:p.Leu1045Ter
XM_011537928.1:c.3134T>A	XP_011536230.1:p.Leu1045Ter
XM_011537929.1:c.3134T>A	XP_011536231.1:p.Leu1045Ter
XM_011537930.1:c.3134T>A	XP_011536232.1:p.Leu1045Ter
XM_011537931.1:c.3134T>A	XP_011536233.1:p.Leu1045Ter
XM_011537932.1:c.3134T>A	XP_011536234.1:p.Leu1045Ter
XM_011537933.1:c.3134T>A	XP_011536235.1:p.Leu1045Ter
XM_011537934.1:c.3131T>A	XP_011536236.1:p.Leu1044Ter
XM_011537935.1:c.2078T>A	XP_011536237.1:p.Leu693Ter
XM_017018828.1:c.3134T>A	XP_016874317.1:p.Leu1045Ter
XM_017018829.1:c.3131T>A	XP_016874318.1:p.Leu1044Ter
XM_017018830.1:c.2924T>A	XP_016874319.1:p.Leu975Ter
XM_017018831.2:c.2444T>A	XP_016874320.1:p.Leu815Ter
NM_001844.5:c.2990T>A MANE Select	NP_001835.3:p.Leu997Ter
NM_033150.3:c.2783T>A	NP_149162.2:p.Leu928Ter