Canonical Allele Identifier: CA384524928

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47997869A>C , CM000674.2:g.47997869A>C	GRCh38
NC_000012.11:g.48391652A>C , CM000674.1:g.48391652A>C	GRCh37
NC_000012.10:g.46677919A>C	NCBI36
NG_008072.1:g.11634T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.429+2T>G MANE Select	NP_001835.3:n.429+2T>G
ENST00000380518.8:c.429+2T>G MANE Select	ENSP00000369889.3:n.429+2T>G
NM_001844.4:c.429+2T>G	NP_001835.3:n.429+2T>G
NM_033150.2:c.222+2T>G	NP_149162.2:n.222+2T>G
NM_033150.3:c.222+2T>G	NP_149162.2:n.222+2T>G
ENST00000337299.6:c.222+2T>G	ENSP00000338213.6:n.222+2T>G
ENST00000337299.7:c.222+2T>G	ENSP00000338213.6:n.222+2T>G
ENST00000380518.7:c.429+2T>G	ENSP00000369889.3:n.429+2T>G
ENST00000474996.6:n.667+2T>G
XM_006719242.2:c.573+2T>G	XP_006719305.2:n.573+2T>G
XM_011537928.1:c.573+2T>G	XP_011536230.1:n.573+2T>G
XM_011537929.1:c.573+2T>G	XP_011536231.1:n.573+2T>G
XM_011537930.1:c.573+2T>G	XP_011536232.1:n.573+2T>G
XM_011537931.1:c.573+2T>G	XP_011536233.1:n.573+2T>G
XM_011537932.1:c.573+2T>G	XP_011536234.1:n.573+2T>G
XM_011537933.1:c.573+2T>G	XP_011536235.1:n.573+2T>G
XM_011537934.1:c.570+2T>G	XP_011536236.1:n.570+2T>G
XM_017018828.1:c.573+2T>G	XP_016874317.1:n.573+2T>G
XM_017018829.1:c.570+2T>G	XP_016874318.1:n.570+2T>G
XM_017018830.1:c.363+2T>G	XP_016874319.1:n.363+2T>G
XM_017018831.2:c.-118+2T>G	XP_016874320.1:n.-118+2T>G
XR_944909.1:n.368-52A>C