Canonical Allele Identifier: CA2618498433

Gene: COL2A1

Linked Data

• gnomAD v4: 12-47985709-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47985710del , CM000674.2:g.47985710del	GRCh38
NC_000012.11:g.48379493del , CM000674.1:g.48379493del	GRCh37
NC_000012.10:g.46665760del	NCBI36
NG_008072.1:g.23793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1473+18del	ENSP00000338213.6:n.1473+18del
ENST00000380518.8:c.1680+18del MANE Select	ENSP00000369889.3:n.1680+18del
ENST00000337299.6:c.1473+18del	ENSP00000338213.6:n.1473+18del
ENST00000380518.7:c.1680+18del	ENSP00000369889.3:n.1680+18del
ENST00000493991.5:n.604+18del
NM_001844.4:c.1680+18del	NP_001835.3:n.1680+18del
NM_033150.2:c.1473+18del	NP_149162.2:n.1473+18del
XM_006719242.2:c.1824+18del	XP_006719305.2:n.1824+18del
XM_011537928.1:c.1824+18del	XP_011536230.1:n.1824+18del
XM_011537929.1:c.1824+18del	XP_011536231.1:n.1824+18del
XM_011537930.1:c.1824+18del	XP_011536232.1:n.1824+18del
XM_011537931.1:c.1824+18del	XP_011536233.1:n.1824+18del
XM_011537932.1:c.1824+18del	XP_011536234.1:n.1824+18del
XM_011537933.1:c.1824+18del	XP_011536235.1:n.1824+18del
XM_011537934.1:c.1821+18del	XP_011536236.1:n.1821+18del
XM_011537935.1:c.768+18del	XP_011536237.1:n.768+18del
XM_017018828.1:c.1824+18del	XP_016874317.1:n.1824+18del
XM_017018829.1:c.1821+18del	XP_016874318.1:n.1821+18del
XM_017018830.1:c.1614+18del	XP_016874319.1:n.1614+18del
XM_017018831.2:c.1134+18del	XP_016874320.1:n.1134+18del
NM_001844.5:c.1680+18del MANE Select	NP_001835.3:n.1680+18del
NM_033150.3:c.1473+18del	NP_149162.2:n.1473+18del