Canonical Allele Identifier: CA384547381

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47983092C>G , CM000674.2:g.47983092C>G	GRCh38
NC_000012.11:g.48376875C>G , CM000674.1:g.48376875C>G	GRCh37
NC_000012.10:g.46663142C>G	NCBI36
NG_008072.1:g.26411G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.2094+1G>C MANE Select	NP_001835.3:n.2094+1G>C
ENST00000380518.8:c.2094+1G>C MANE Select	ENSP00000369889.3:n.2094+1G>C
NM_001844.4:c.2094+1G>C	NP_001835.3:n.2094+1G>C
NM_033150.2:c.1887+1G>C	NP_149162.2:n.1887+1G>C
NM_033150.3:c.1887+1G>C	NP_149162.2:n.1887+1G>C
ENST00000337299.6:c.1887+1G>C	ENSP00000338213.6:n.1887+1G>C
ENST00000337299.7:c.1887+1G>C	ENSP00000338213.6:n.1887+1G>C
ENST00000380518.7:c.2094+1G>C	ENSP00000369889.3:n.2094+1G>C
ENST00000483376.1:n.272+1G>C
ENST00000493991.5:n.1018+1G>C
XM_006719242.2:c.2238+1G>C	XP_006719305.2:n.2238+1G>C
XM_011537928.1:c.2238+1G>C	XP_011536230.1:n.2238+1G>C
XM_011537929.1:c.2238+1G>C	XP_011536231.1:n.2238+1G>C
XM_011537930.1:c.2238+1G>C	XP_011536232.1:n.2238+1G>C
XM_011537931.1:c.2238+1G>C	XP_011536233.1:n.2238+1G>C
XM_011537932.1:c.2238+1G>C	XP_011536234.1:n.2238+1G>C
XM_011537933.1:c.2238+1G>C	XP_011536235.1:n.2238+1G>C
XM_011537934.1:c.2235+1G>C	XP_011536236.1:n.2235+1G>C
XM_011537935.1:c.1182+1G>C	XP_011536237.1:n.1182+1G>C
XM_017018828.1:c.2238+1G>C	XP_016874317.1:n.2238+1G>C
XM_017018829.1:c.2235+1G>C	XP_016874318.1:n.2235+1G>C
XM_017018830.1:c.2028+1G>C	XP_016874319.1:n.2028+1G>C
XM_017018831.2:c.1548+1G>C	XP_016874320.1:n.1548+1G>C