Canonical Allele Identifier: CA127160

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47993825C>T , CM000674.2:g.47993825C>T	GRCh38
NC_000012.11:g.48387608C>T , CM000674.1:g.48387608C>T	GRCh37
NC_000012.10:g.46673875C>T	NCBI36
NG_008072.1:g.15678G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.908G>A MANE Select	NP_001835.3:p.Gly303Asp
ENST00000380518.8:c.908G>A MANE Select	ENSP00000369889.3:p.Gly303Asp
NM_001844.4:c.908G>A	NP_001835.3:p.Gly303Asp
NM_033150.2:c.701G>A	NP_149162.2:p.Gly234Asp
NM_033150.3:c.701G>A	NP_149162.2:p.Gly234Asp
ENST00000337299.6:c.701G>A	ENSP00000338213.6:p.Gly234Asp
ENST00000337299.7:c.701G>A	ENSP00000338213.6:p.Gly234Asp
ENST00000380518.7:c.908G>A	ENSP00000369889.3:p.Gly303Asp
XM_006719242.2:c.1052G>A	XP_006719305.2:p.Gly351Asp
XM_011537928.1:c.1052G>A	XP_011536230.1:p.Gly351Asp
XM_011537929.1:c.1052G>A	XP_011536231.1:p.Gly351Asp
XM_011537930.1:c.1052G>A	XP_011536232.1:p.Gly351Asp
XM_011537931.1:c.1052G>A	XP_011536233.1:p.Gly351Asp
XM_011537932.1:c.1052G>A	XP_011536234.1:p.Gly351Asp
XM_011537933.1:c.1052G>A	XP_011536235.1:p.Gly351Asp
XM_011537934.1:c.1049G>A	XP_011536236.1:p.Gly350Asp
XM_017018828.1:c.1052G>A	XP_016874317.1:p.Gly351Asp
XM_017018829.1:c.1049G>A	XP_016874318.1:p.Gly350Asp
XM_017018830.1:c.842G>A	XP_016874319.1:p.Gly281Asp
XM_017018831.2:c.362G>A	XP_016874320.1:p.Gly121Asp