Canonical Allele Identifier: CA2842407729

Gene: COL2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47974240dup , CM000674.2:g.47974240dup	GRCh38
NC_000012.11:g.48368023dup , CM000674.1:g.48368023dup	GRCh37
NC_000012.10:g.46654290dup	NCBI36
NG_008072.1:g.35263dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.3959dup	ENSP00000338213.6:p.Thr1321HisfsTer29
ENST00000380518.8:c.4166dup MANE Select	ENSP00000369889.3:p.Thr1390HisfsTer29
ENST00000337299.6:c.3959dup	ENSP00000338213.6:p.Thr1321HisfsTer29
ENST00000380518.7:c.4166dup	ENSP00000369889.3:p.Thr1390HisfsTer29
ENST00000493991.5:n.3252dup
NM_001844.4:c.4166dup	NP_001835.3:p.Thr1390HisfsTer29
NM_033150.2:c.3959dup	NP_149162.2:p.Thr1321HisfsTer29
XM_006719242.2:c.4310dup	XP_006719305.2:p.Thr1438HisfsTer29
XM_011537928.1:c.4310dup	XP_011536230.1:p.Thr1438HisfsTer29
XM_011537929.1:c.4310dup	XP_011536231.1:p.Thr1438HisfsTer29
XM_011537930.1:c.4310dup	XP_011536232.1:p.Thr1438HisfsTer29
XM_011537931.1:c.4310dup	XP_011536233.1:p.Thr1438HisfsTer29
XM_011537932.1:c.4310dup	XP_011536234.1:p.Thr1438HisfsTer29
XM_011537933.1:c.4310dup	XP_011536235.1:p.Thr1438HisfsTer29
XM_011537934.1:c.4307dup	XP_011536236.1:p.Thr1437HisfsTer29
XM_011537935.1:c.3254dup	XP_011536237.1:p.Thr1086HisfsTer29
XM_017018828.1:c.4310dup	XP_016874317.1:p.Thr1438HisfsTer29
XM_017018829.1:c.4307dup	XP_016874318.1:p.Thr1437HisfsTer29
XM_017018830.1:c.4100dup	XP_016874319.1:p.Thr1368HisfsTer29
XM_017018831.2:c.3620dup	XP_016874320.1:p.Thr1208HisfsTer29
NM_001844.5:c.4166dup MANE Select	NP_001835.3:p.Thr1390HisfsTer29
NM_033150.3:c.3959dup	NP_149162.2:p.Thr1321HisfsTer29