Canonical Allele Identifier: CA2573148638

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1478895
• ClinVar RCV Id: RCV002019133
• dbSNP Id: rs2136526580

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978372_47978380del , CM000674.2:g.47978372_47978380del	GRCh38
NC_000012.11:g.48372155_48372163del , CM000674.1:g.48372155_48372163del	GRCh37
NC_000012.10:g.46658422_46658430del	NCBI36
NG_008072.1:g.31127_31135del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2711_2719del	ENSP00000338213.6:p.Pro904_Gly906del
ENST00000380518.8:c.2918_2926del MANE Select	ENSP00000369889.3:p.Pro973_Gly975del
ENST00000337299.6:c.2711_2719del	ENSP00000338213.6:p.Pro904_Gly906del
ENST00000380518.7:c.2918_2926del	ENSP00000369889.3:p.Pro973_Gly975del
ENST00000493991.5:n.2004_2012del
NM_001844.4:c.2918_2926del	NP_001835.3:p.Pro973_Gly975del
NM_033150.2:c.2711_2719del	NP_149162.2:p.Pro904_Gly906del
XM_006719242.2:c.3062_3070del	XP_006719305.2:p.Pro1021_Gly1023del
XM_011537928.1:c.3062_3070del	XP_011536230.1:p.Pro1021_Gly1023del
XM_011537929.1:c.3062_3070del	XP_011536231.1:p.Pro1021_Gly1023del
XM_011537930.1:c.3062_3070del	XP_011536232.1:p.Pro1021_Gly1023del
XM_011537931.1:c.3062_3070del	XP_011536233.1:p.Pro1021_Gly1023del
XM_011537932.1:c.3062_3070del	XP_011536234.1:p.Pro1021_Gly1023del
XM_011537933.1:c.3062_3070del	XP_011536235.1:p.Pro1021_Gly1023del
XM_011537934.1:c.3059_3067del	XP_011536236.1:p.Pro1020_Gly1022del
XM_011537935.1:c.2006_2014del	XP_011536237.1:p.Pro669_Gly671del
XM_017018828.1:c.3062_3070del	XP_016874317.1:p.Pro1021_Gly1023del
XM_017018829.1:c.3059_3067del	XP_016874318.1:p.Pro1020_Gly1022del
XM_017018830.1:c.2852_2860del	XP_016874319.1:p.Pro951_Gly953del
XM_017018831.2:c.2372_2380del	XP_016874320.1:p.Pro791_Gly793del
NM_001844.5:c.2918_2926del MANE Select	NP_001835.3:p.Pro973_Gly975del
NM_033150.3:c.2711_2719del	NP_149162.2:p.Pro904_Gly906del