Canonical Allele Identifier: CA6534864

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 1041678
• ClinVar RCV Id: RCV001345519 ; RCV004531139
• dbSNP Id: rs773138674
• ExAC: 12:48371375 ACACT / A
• gnomAD v2: 12-48371375-ACACT-A
• gnomAD v4: 12-47977592-ACACT-A
• MyVariant Identifiers: chr12:g.48371376_48371379del (hg19) ; chr12:g.47977593_47977596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977596_47977599del , CM000674.2:g.47977596_47977599del	GRCh38
NC_000012.11:g.48371379_48371382del , CM000674.1:g.48371379_48371382del	GRCh37
NC_000012.10:g.46657646_46657649del	NCBI36
NG_008072.1:g.31907_31910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2958+4_2958+7del	ENSP00000338213.6:n.2958+4_2958+7del
ENST00000380518.8:c.3165+4_3165+7del MANE Select	ENSP00000369889.3:n.3165+4_3165+7del
ENST00000337299.6:c.2958+4_2958+7del	ENSP00000338213.6:n.2958+4_2958+7del
ENST00000380518.7:c.3165+4_3165+7del	ENSP00000369889.3:n.3165+4_3165+7del
ENST00000493991.5:n.2251+4_2251+7del
NM_001844.4:c.3165+4_3165+7del	NP_001835.3:n.3165+4_3165+7del
NM_033150.2:c.2958+4_2958+7del	NP_149162.2:n.2958+4_2958+7del
XM_006719242.2:c.3309+4_3309+7del	XP_006719305.2:n.3309+4_3309+7del
XM_011537928.1:c.3309+4_3309+7del	XP_011536230.1:n.3309+4_3309+7del
XM_011537929.1:c.3309+4_3309+7del	XP_011536231.1:n.3309+4_3309+7del
XM_011537930.1:c.3309+4_3309+7del	XP_011536232.1:n.3309+4_3309+7del
XM_011537931.1:c.3309+4_3309+7del	XP_011536233.1:n.3309+4_3309+7del
XM_011537932.1:c.3309+4_3309+7del	XP_011536234.1:n.3309+4_3309+7del
XM_011537933.1:c.3309+4_3309+7del	XP_011536235.1:n.3309+4_3309+7del
XM_011537934.1:c.3306+4_3306+7del	XP_011536236.1:n.3306+4_3306+7del
XM_011537935.1:c.2253+4_2253+7del	XP_011536237.1:n.2253+4_2253+7del
XM_017018828.1:c.3309+4_3309+7del	XP_016874317.1:n.3309+4_3309+7del
XM_017018829.1:c.3306+4_3306+7del	XP_016874318.1:n.3306+4_3306+7del
XM_017018830.1:c.3099+4_3099+7del	XP_016874319.1:n.3099+4_3099+7del
XM_017018831.2:c.2619+4_2619+7del	XP_016874320.1:n.2619+4_2619+7del
NM_001844.5:c.3165+4_3165+7del MANE Select	NP_001835.3:n.3165+4_3165+7del
NM_033150.3:c.2958+4_2958+7del	NP_149162.2:n.2958+4_2958+7del