Canonical Allele Identifier: CA384525025

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47997912C>A , CM000674.2:g.47997912C>A	GRCh38
NC_000012.11:g.48391695C>A , CM000674.1:g.48391695C>A	GRCh37
NC_000012.10:g.46677962C>A	NCBI36
NG_008072.1:g.11591G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001844.5:c.388G>T MANE Select	NP_001835.3:p.Glu130Ter
ENST00000380518.8:c.388G>T MANE Select	ENSP00000369889.3:p.Glu130Ter
NM_001844.4:c.388G>T	NP_001835.3:p.Glu130Ter
NM_033150.2:c.181G>T	NP_149162.2:p.Glu61Ter
NM_033150.3:c.181G>T	NP_149162.2:p.Glu61Ter
ENST00000337299.6:c.181G>T	ENSP00000338213.6:p.Glu61Ter
ENST00000337299.7:c.181G>T	ENSP00000338213.6:p.Glu61Ter
ENST00000380518.7:c.388G>T	ENSP00000369889.3:p.Glu130Ter
ENST00000474996.6:n.626G>T
XM_006719242.2:c.532G>T	XP_006719305.2:p.Glu178Ter
XM_011537928.1:c.532G>T	XP_011536230.1:p.Glu178Ter
XM_011537929.1:c.532G>T	XP_011536231.1:p.Glu178Ter
XM_011537930.1:c.532G>T	XP_011536232.1:p.Glu178Ter
XM_011537931.1:c.532G>T	XP_011536233.1:p.Glu178Ter
XM_011537932.1:c.532G>T	XP_011536234.1:p.Glu178Ter
XM_011537933.1:c.532G>T	XP_011536235.1:p.Glu178Ter
XM_011537934.1:c.529G>T	XP_011536236.1:p.Glu177Ter
XM_017018828.1:c.532G>T	XP_016874317.1:p.Glu178Ter
XM_017018829.1:c.529G>T	XP_016874318.1:p.Glu177Ter
XM_017018830.1:c.322G>T	XP_016874319.1:p.Glu108Ter
XM_017018831.2:c.-159G>T	XP_016874320.1:n.-159G>T
XR_944909.1:n.368-9C>A