Canonical Allele Identifier: CA947355147

Gene: COL2A1

Linked Data

• dbSNP Id: rs1939396992
• gnomAD v3: 12-47986213-GGAGA-G
• gnomAD v4: 12-47986213-GGAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47986214_47986217del , CM000674.2:g.47986214_47986217del	GRCh38
NC_000012.11:g.48379997_48380000del , CM000674.1:g.48379997_48380000del	GRCh37
NC_000012.10:g.46666264_46666267del	NCBI36
NG_008072.1:g.23286_23289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.1320+119_1320+122del	ENSP00000338213.6:n.1320+119_1320+122del
ENST00000380518.8:c.1527+119_1527+122del MANE Select	ENSP00000369889.3:n.1527+119_1527+122del
ENST00000337299.6:c.1320+119_1320+122del	ENSP00000338213.6:n.1320+119_1320+122del
ENST00000380518.7:c.1527+119_1527+122del	ENSP00000369889.3:n.1527+119_1527+122del
ENST00000493991.5:n.451+119_451+122del
NM_001844.4:c.1527+119_1527+122del	NP_001835.3:n.1527+119_1527+122del
NM_033150.2:c.1320+119_1320+122del	NP_149162.2:n.1320+119_1320+122del
XM_006719242.2:c.1671+119_1671+122del	XP_006719305.2:n.1671+119_1671+122del
XM_011537928.1:c.1671+119_1671+122del	XP_011536230.1:n.1671+119_1671+122del
XM_011537929.1:c.1671+119_1671+122del	XP_011536231.1:n.1671+119_1671+122del
XM_011537930.1:c.1671+119_1671+122del	XP_011536232.1:n.1671+119_1671+122del
XM_011537931.1:c.1671+119_1671+122del	XP_011536233.1:n.1671+119_1671+122del
XM_011537932.1:c.1671+119_1671+122del	XP_011536234.1:n.1671+119_1671+122del
XM_011537933.1:c.1671+119_1671+122del	XP_011536235.1:n.1671+119_1671+122del
XM_011537934.1:c.1668+119_1668+122del	XP_011536236.1:n.1668+119_1668+122del
XM_011537935.1:c.615+119_615+122del	XP_011536237.1:n.615+119_615+122del
XM_017018828.1:c.1671+119_1671+122del	XP_016874317.1:n.1671+119_1671+122del
XM_017018829.1:c.1668+119_1668+122del	XP_016874318.1:n.1668+119_1668+122del
XM_017018830.1:c.1461+119_1461+122del	XP_016874319.1:n.1461+119_1461+122del
XM_017018831.2:c.981+119_981+122del	XP_016874320.1:n.981+119_981+122del
NM_001844.5:c.1527+119_1527+122del MANE Select	NP_001835.3:n.1527+119_1527+122del
NM_033150.3:c.1320+119_1320+122del	NP_149162.2:n.1320+119_1320+122del