Canonical Allele Identifier: CA384545605

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47982106C>T , CM000674.2:g.47982106C>T	GRCh38
NC_000012.11:g.48375889C>T , CM000674.1:g.48375889C>T	GRCh37
NC_000012.10:g.46662156C>T	NCBI36
NG_008072.1:g.27397G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.2355+1G>A MANE Select	NP_001835.3:n.2355+1G>A
ENST00000380518.8:c.2355+1G>A MANE Select	ENSP00000369889.3:n.2355+1G>A
NM_001844.4:c.2355+1G>A	NP_001835.3:n.2355+1G>A
NM_033150.2:c.2148+1G>A	NP_149162.2:n.2148+1G>A
NM_033150.3:c.2148+1G>A	NP_149162.2:n.2148+1G>A
ENST00000337299.6:c.2148+1G>A	ENSP00000338213.6:n.2148+1G>A
ENST00000337299.7:c.2148+1G>A	ENSP00000338213.6:n.2148+1G>A
ENST00000380518.7:c.2355+1G>A	ENSP00000369889.3:n.2355+1G>A
ENST00000483376.1:n.533+1G>A
ENST00000493991.5:n.1280G>A
XM_006719242.2:c.2499+1G>A	XP_006719305.2:n.2499+1G>A
XM_011537928.1:c.2499+1G>A	XP_011536230.1:n.2499+1G>A
XM_011537929.1:c.2499+1G>A	XP_011536231.1:n.2499+1G>A
XM_011537930.1:c.2499+1G>A	XP_011536232.1:n.2499+1G>A
XM_011537931.1:c.2499+1G>A	XP_011536233.1:n.2499+1G>A
XM_011537932.1:c.2499+1G>A	XP_011536234.1:n.2499+1G>A
XM_011537933.1:c.2499+1G>A	XP_011536235.1:n.2499+1G>A
XM_011537934.1:c.2496+1G>A	XP_011536236.1:n.2496+1G>A
XM_011537935.1:c.1443+1G>A	XP_011536237.1:n.1443+1G>A
XM_017018828.1:c.2499+1G>A	XP_016874317.1:n.2499+1G>A
XM_017018829.1:c.2496+1G>A	XP_016874318.1:n.2496+1G>A
XM_017018830.1:c.2289+1G>A	XP_016874319.1:n.2289+1G>A
XM_017018831.2:c.1809+1G>A	XP_016874320.1:n.1809+1G>A
XR_944910.1:n.209-309C>T