Canonical Allele Identifier: CA6534440

Gene: COL2A1

Linked Data

• dbSNP Id: rs773726072
• ExAC: 12:48367146 C / CCTT
• gnomAD v2: 12-48367146-C-CCTT
• gnomAD v3: 12-47973363-C-CCTT
• gnomAD v4: 12-47973363-C-CCTT
• MyVariant Identifiers: chr12:g.48367146_48367147insCTT (hg19) ; chr12:g.47973363_47973364insCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.47973364_47973366dup , CM000674.2:g.47973364_47973366dup	GRCh38
NC_000012.11:g.48367147_48367149dup , CM000674.1:g.48367147_48367149dup	GRCh37
NC_000012.10:g.46653414_46653416dup	NCBI36
NG_008072.1:g.36137_36139dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380518.8:c.*41_*43dup MANE Select	ENSP00000369889.3:n.*41_*43dup
ENST00000380518.7:c.*41_*43dup	ENSP00000369889.3:n.*41_*43dup
ENST00000493991.5:n.3591_3593dup
NM_001844.4:c.*41_*43dup	NP_001835.3:n.*41_*43dup
NM_033150.2:c.*41_*43dup	NP_149162.2:n.*41_*43dup
XM_006719242.2:c.*41_*43dup	XP_006719305.2:n.*41_*43dup
XM_011537928.1:c.*41_*43dup	XP_011536230.1:n.*41_*43dup
XM_011537929.1:c.*41_*43dup	XP_011536231.1:n.*41_*43dup
XM_011537930.1:c.*41_*43dup	XP_011536232.1:n.*41_*43dup
XM_011537931.1:c.*41_*43dup	XP_011536233.1:n.*41_*43dup
XM_011537932.1:c.*41_*43dup	XP_011536234.1:n.*41_*43dup
XM_011537933.1:c.*41_*43dup	XP_011536235.1:n.*41_*43dup
XM_011537934.1:c.*41_*43dup	XP_011536236.1:n.*41_*43dup
XM_011537935.1:c.*41_*43dup	XP_011536237.1:n.*41_*43dup
XM_017018828.1:c.*41_*43dup	XP_016874317.1:n.*41_*43dup
XM_017018829.1:c.*41_*43dup	XP_016874318.1:n.*41_*43dup
XM_017018830.1:c.*41_*43dup	XP_016874319.1:n.*41_*43dup
XM_017018831.2:c.*41_*43dup	XP_016874320.1:n.*41_*43dup
NM_001844.5:c.*41_*43dup MANE Select	NP_001835.3:n.*41_*43dup
NM_033150.3:c.*41_*43dup	NP_149162.2:n.*41_*43dup