Canonical Allele Identifier: CA658658149

Gene: COL2A1

Linked Data

• ClinVar Variation Id: 450117
• ClinVar RCV Id: RCV000523288 ; RCV000709797
• dbSNP Id: rs1555165173
• gnomAD v4: 12-47977160-GGAGA-G
• MyVariant Identifiers: chr12:g.48370944_48370947del (hg19) ; chr12:g.47977161_47977164del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47977164_47977167del , CM000674.2:g.47977164_47977167del	GRCh38
NC_000012.11:g.48370947_48370950del , CM000674.1:g.48370947_48370950del	GRCh37
NC_000012.10:g.46657214_46657217del	NCBI36
NG_008072.1:g.32339_32342del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337299.7:c.3067-9_3067-6del	ENSP00000338213.6:n.3067-9_3067-6del
ENST00000380518.8:c.3274-9_3274-6del MANE Select	ENSP00000369889.3:n.3274-9_3274-6del
ENST00000337299.6:c.3067-9_3067-6del	ENSP00000338213.6:n.3067-9_3067-6del
ENST00000380518.7:c.3274-9_3274-6del	ENSP00000369889.3:n.3274-9_3274-6del
ENST00000493991.5:n.2360-9_2360-6del
ENST00000546974.1:n.127-9_127-6del
NM_001844.4:c.3274-9_3274-6del	NP_001835.3:n.3274-9_3274-6del
NM_033150.2:c.3067-9_3067-6del	NP_149162.2:n.3067-9_3067-6del
XM_006719242.2:c.3418-9_3418-6del	XP_006719305.2:n.3418-9_3418-6del
XM_011537928.1:c.3418-9_3418-6del	XP_011536230.1:n.3418-9_3418-6del
XM_011537929.1:c.3418-9_3418-6del	XP_011536231.1:n.3418-9_3418-6del
XM_011537930.1:c.3418-9_3418-6del	XP_011536232.1:n.3418-9_3418-6del
XM_011537931.1:c.3418-9_3418-6del	XP_011536233.1:n.3418-9_3418-6del
XM_011537932.1:c.3418-9_3418-6del	XP_011536234.1:n.3418-9_3418-6del
XM_011537933.1:c.3418-9_3418-6del	XP_011536235.1:n.3418-9_3418-6del
XM_011537934.1:c.3415-9_3415-6del	XP_011536236.1:n.3415-9_3415-6del
XM_011537935.1:c.2362-9_2362-6del	XP_011536237.1:n.2362-9_2362-6del
XM_017018828.1:c.3418-9_3418-6del	XP_016874317.1:n.3418-9_3418-6del
XM_017018829.1:c.3415-9_3415-6del	XP_016874318.1:n.3415-9_3415-6del
XM_017018830.1:c.3208-9_3208-6del	XP_016874319.1:n.3208-9_3208-6del
XM_017018831.2:c.2728-9_2728-6del	XP_016874320.1:n.2728-9_2728-6del
NM_001844.5:c.3274-9_3274-6del MANE Select	NP_001835.3:n.3274-9_3274-6del
NM_033150.3:c.3067-9_3067-6del	NP_149162.2:n.3067-9_3067-6del