Canonical Allele Identifier: CA605231478

Gene: COL2A1

Linked Data

• dbSNP Id: rs1565671532
• gnomAD v2: 12-48372057-GGATA-G
• gnomAD v4: 12-47978274-GGATA-G
• MyVariant Identifiers: chr12:g.48372058_48372061del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47978275_47978278del , CM000674.2:g.47978275_47978278del	GRCh38
NC_000012.11:g.48372058_48372061del , CM000674.1:g.48372058_48372061del	GRCh37
NC_000012.10:g.46658325_46658328del	NCBI36
NG_008072.1:g.31225_31228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337299.7:c.2796+13_2796+16del	ENSP00000338213.6:n.2796+13_2796+16del
ENST00000380518.8:c.3003+13_3003+16del MANE Select	ENSP00000369889.3:n.3003+13_3003+16del
ENST00000337299.6:c.2796+13_2796+16del	ENSP00000338213.6:n.2796+13_2796+16del
ENST00000380518.7:c.3003+13_3003+16del	ENSP00000369889.3:n.3003+13_3003+16del
ENST00000493991.5:n.2089+13_2089+16del
NM_001844.4:c.3003+13_3003+16del	NP_001835.3:n.3003+13_3003+16del
NM_033150.2:c.2796+13_2796+16del	NP_149162.2:n.2796+13_2796+16del
XM_006719242.2:c.3147+13_3147+16del	XP_006719305.2:n.3147+13_3147+16del
XM_011537928.1:c.3147+13_3147+16del	XP_011536230.1:n.3147+13_3147+16del
XM_011537929.1:c.3147+13_3147+16del	XP_011536231.1:n.3147+13_3147+16del
XM_011537930.1:c.3147+13_3147+16del	XP_011536232.1:n.3147+13_3147+16del
XM_011537931.1:c.3147+13_3147+16del	XP_011536233.1:n.3147+13_3147+16del
XM_011537932.1:c.3147+13_3147+16del	XP_011536234.1:n.3147+13_3147+16del
XM_011537933.1:c.3147+13_3147+16del	XP_011536235.1:n.3147+13_3147+16del
XM_011537934.1:c.3144+13_3144+16del	XP_011536236.1:n.3144+13_3144+16del
XM_011537935.1:c.2091+13_2091+16del	XP_011536237.1:n.2091+13_2091+16del
XM_017018828.1:c.3147+13_3147+16del	XP_016874317.1:n.3147+13_3147+16del
XM_017018829.1:c.3144+13_3144+16del	XP_016874318.1:n.3144+13_3144+16del
XM_017018830.1:c.2937+13_2937+16del	XP_016874319.1:n.2937+13_2937+16del
XM_017018831.2:c.2457+13_2457+16del	XP_016874320.1:n.2457+13_2457+16del
NM_001844.5:c.3003+13_3003+16del MANE Select	NP_001835.3:n.3003+13_3003+16del
NM_033150.3:c.2796+13_2796+16del	NP_149162.2:n.2796+13_2796+16del