Canonical Allele Identifier: CA2499221660

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1067954
• ClinVar RCV Id: RCV001379358 ; RCV003388006
• dbSNP Id: rs2136526614

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978382_47978390del , CM000674.2:g.47978382_47978390del	GRCh38
NC_000012.11:g.48372165_48372173del , CM000674.1:g.48372165_48372173del	GRCh37
NC_000012.10:g.46658432_46658440del	NCBI36
NG_008072.1:g.31119_31127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2703_2711del	ENSP00000338213.6:p.Pro902_Pro904del
ENST00000380518.8:c.2910_2918del MANE Select	ENSP00000369889.3:p.Pro971_Pro973del
ENST00000337299.6:c.2703_2711del	ENSP00000338213.6:p.Pro902_Pro904del
ENST00000380518.7:c.2910_2918del	ENSP00000369889.3:p.Pro971_Pro973del
ENST00000493991.5:n.1996_2004del
NM_001844.4:c.2910_2918del	NP_001835.3:p.Pro971_Pro973del
NM_033150.2:c.2703_2711del	NP_149162.2:p.Pro902_Pro904del
XM_006719242.2:c.3054_3062del	XP_006719305.2:p.Pro1019_Pro1021del
XM_011537928.1:c.3054_3062del	XP_011536230.1:p.Pro1019_Pro1021del
XM_011537929.1:c.3054_3062del	XP_011536231.1:p.Pro1019_Pro1021del
XM_011537930.1:c.3054_3062del	XP_011536232.1:p.Pro1019_Pro1021del
XM_011537931.1:c.3054_3062del	XP_011536233.1:p.Pro1019_Pro1021del
XM_011537932.1:c.3054_3062del	XP_011536234.1:p.Pro1019_Pro1021del
XM_011537933.1:c.3054_3062del	XP_011536235.1:p.Pro1019_Pro1021del
XM_011537934.1:c.3051_3059del	XP_011536236.1:p.Pro1018_Pro1020del
XM_011537935.1:c.1998_2006del	XP_011536237.1:p.Pro667_Pro669del
XM_017018828.1:c.3054_3062del	XP_016874317.1:p.Pro1019_Pro1021del
XM_017018829.1:c.3051_3059del	XP_016874318.1:p.Pro1018_Pro1020del
XM_017018830.1:c.2844_2852del	XP_016874319.1:p.Pro949_Pro951del
XM_017018831.2:c.2364_2372del	XP_016874320.1:p.Pro789_Pro791del
NM_001844.5:c.2910_2918del MANE Select	NP_001835.3:p.Pro971_Pro973del
NM_033150.3:c.2703_2711del	NP_149162.2:p.Pro902_Pro904del