Canonical Allele Identifier: CA6535579

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47987611G>A , CM000674.2:g.47987611G>A	GRCh38
NC_000012.11:g.48381394G>A , CM000674.1:g.48381394G>A	GRCh37
NC_000012.10:g.46667661G>A	NCBI36
NG_008072.1:g.21892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1014C>T	ENSP00000338213.6:p.Ser338=
ENST00000380518.8:c.1221C>T MANE Select	ENSP00000369889.3:p.Ser407=
ENST00000337299.6:c.1014C>T	ENSP00000338213.6:p.Ser338=
ENST00000380518.7:c.1221C>T	ENSP00000369889.3:p.Ser407=
ENST00000493991.5:n.145C>T
NM_001844.4:c.1221C>T	NP_001835.3:p.Ser407=
NM_033150.2:c.1014C>T	NP_149162.2:p.Ser338=
XM_006719242.2:c.1365C>T	XP_006719305.2:p.Ser455=
XM_011537928.1:c.1365C>T	XP_011536230.1:p.Ser455=
XM_011537929.1:c.1365C>T	XP_011536231.1:p.Ser455=
XM_011537930.1:c.1365C>T	XP_011536232.1:p.Ser455=
XM_011537931.1:c.1365C>T	XP_011536233.1:p.Ser455=
XM_011537932.1:c.1365C>T	XP_011536234.1:p.Ser455=
XM_011537933.1:c.1365C>T	XP_011536235.1:p.Ser455=
XM_011537934.1:c.1362C>T	XP_011536236.1:p.Ser454=
XM_011537935.1:c.309C>T	XP_011536237.1:p.Ser103=
XM_017018828.1:c.1365C>T	XP_016874317.1:p.Ser455=
XM_017018829.1:c.1362C>T	XP_016874318.1:p.Ser454=
XM_017018830.1:c.1155C>T	XP_016874319.1:p.Ser385=
XM_017018831.2:c.675C>T	XP_016874320.1:p.Ser225=
NM_001844.5:c.1221C>T MANE Select	NP_001835.3:p.Ser407=
NM_033150.3:c.1014C>T	NP_149162.2:p.Ser338=