Canonical Allele Identifier: CA2573148633

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1370186
• ClinVar RCV Id: RCV001877028
• dbSNP Id: rs2136526235

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978303_47978311del , CM000674.2:g.47978303_47978311del	GRCh38
NC_000012.11:g.48372086_48372094del , CM000674.1:g.48372086_48372094del	GRCh37
NC_000012.10:g.46658353_46658361del	NCBI36
NG_008072.1:g.31198_31206del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.2782_2790del	ENSP00000338213.6:p.Leu928_Gly930del
ENST00000380518.8:c.2989_2997del MANE Select	ENSP00000369889.3:p.Leu997_Gly999del
ENST00000337299.6:c.2782_2790del	ENSP00000338213.6:p.Leu928_Gly930del
ENST00000380518.7:c.2989_2997del	ENSP00000369889.3:p.Leu997_Gly999del
ENST00000493991.5:n.2075_2083del
NM_001844.4:c.2989_2997del	NP_001835.3:p.Leu997_Gly999del
NM_033150.2:c.2782_2790del	NP_149162.2:p.Leu928_Gly930del
XM_006719242.2:c.3133_3141del	XP_006719305.2:p.Leu1045_Gly1047del
XM_011537928.1:c.3133_3141del	XP_011536230.1:p.Leu1045_Gly1047del
XM_011537929.1:c.3133_3141del	XP_011536231.1:p.Leu1045_Gly1047del
XM_011537930.1:c.3133_3141del	XP_011536232.1:p.Leu1045_Gly1047del
XM_011537931.1:c.3133_3141del	XP_011536233.1:p.Leu1045_Gly1047del
XM_011537932.1:c.3133_3141del	XP_011536234.1:p.Leu1045_Gly1047del
XM_011537933.1:c.3133_3141del	XP_011536235.1:p.Leu1045_Gly1047del
XM_011537934.1:c.3130_3138del	XP_011536236.1:p.Leu1044_Gly1046del
XM_011537935.1:c.2077_2085del	XP_011536237.1:p.Leu693_Gly695del
XM_017018828.1:c.3133_3141del	XP_016874317.1:p.Leu1045_Gly1047del
XM_017018829.1:c.3130_3138del	XP_016874318.1:p.Leu1044_Gly1046del
XM_017018830.1:c.2923_2931del	XP_016874319.1:p.Leu975_Gly977del
XM_017018831.2:c.2443_2451del	XP_016874320.1:p.Leu815_Gly817del
NM_001844.5:c.2989_2997del MANE Select	NP_001835.3:p.Leu997_Gly999del
NM_033150.3:c.2782_2790del	NP_149162.2:p.Leu928_Gly930del