Canonical Allele Identifier: CA6536018

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47998199T>C , CM000674.2:g.47998199T>C	GRCh38
NC_000012.11:g.48391982T>C , CM000674.1:g.48391982T>C	GRCh37
NC_000012.10:g.46678249T>C	NCBI36
NG_008072.1:g.11304A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.312A>G MANE Select	NP_001835.3:p.Gly104=
ENST00000380518.8:c.312A>G MANE Select	ENSP00000369889.3:p.Gly104=
NM_001844.4:c.312A>G	NP_001835.3:p.Gly104=
NM_033150.2:c.105A>G	NP_149162.2:p.Gly35=
NM_033150.3:c.105A>G	NP_149162.2:p.Gly35=
ENST00000337299.6:c.105A>G	ENSP00000338213.6:p.Gly35=
ENST00000337299.7:c.105A>G	ENSP00000338213.6:p.Gly35=
ENST00000380518.7:c.312A>G	ENSP00000369889.3:p.Gly104=
ENST00000466884.1:n.448A>G
ENST00000474996.6:n.550A>G
XM_006719242.2:c.456A>G	XP_006719305.2:p.Gly152=
XM_011537928.1:c.456A>G	XP_011536230.1:p.Gly152=
XM_011537929.1:c.456A>G	XP_011536231.1:p.Gly152=
XM_011537930.1:c.456A>G	XP_011536232.1:p.Gly152=
XM_011537931.1:c.456A>G	XP_011536233.1:p.Gly152=
XM_011537932.1:c.456A>G	XP_011536234.1:p.Gly152=
XM_011537933.1:c.456A>G	XP_011536235.1:p.Gly152=
XM_011537934.1:c.453A>G	XP_011536236.1:p.Gly151=
XM_017018828.1:c.456A>G	XP_016874317.1:p.Gly152=
XM_017018829.1:c.453A>G	XP_016874318.1:p.Gly151=
XM_017018830.1:c.246A>G	XP_016874319.1:p.Gly82=
XM_017018831.2:c.-235A>G	XP_016874320.1:n.-235A>G