Canonical Allele Identifier: CA2392498544

Gene: COL6A2

Linked Data

• dbSNP Id: rs2078413410
• gnomAD v4: 21-46112321-C-CCGTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46112323_46112328dup , CM000683.2:g.46112323_46112328dup	GRCh38
NC_000021.8:g.47532237_47532242dup , CM000683.1:g.47532237_47532242dup	GRCh37
NC_000021.7:g.46356665_46356670dup	NCBI36
NG_008675.1:g.19205_19210dup , LRG_476:g.19205_19210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.460_465dup MANE Plus Clinical	ENSP00000380870.1:p.His155_Phe156insValHis
ENST00000300527.9:c.460_465dup MANE Select	ENSP00000300527.4:p.His155_Phe156insValHis
ENST00000409416.6:c.460_465dup	ENSP00000387115.1:p.His155_Phe156insValHis
ENST00000300527.8:c.460_465dup	ENSP00000300527.4:p.His155_Phe156insValHis
ENST00000310645.9:c.460_465dup	ENSP00000312529.5:p.His155_Phe156insValHis
ENST00000397763.5:c.460_465dup	ENSP00000380870.1:p.His155_Phe156insValHis
ENST00000409416.5:c.460_465dup	ENSP00000387115.1:p.His155_Phe156insValHis
ENST00000436769.5:c.460_465dup	ENSP00000390418.1:p.His155_Phe156insValHis
NM_001849.3:c.460_465dup , LRG_476t1:c.460_465dup	NP_001840.3:p.His155_Phe156insValHis
NM_058174.2:c.460_465dup	NP_478054.2:p.His155_Phe156insValHis
NM_058175.2:c.460_465dup	NP_478055.2:p.His155_Phe156insValHis
XM_011529451.1:c.460_465dup	XP_011527753.1:p.His155_Phe156insValHis
XM_011529452.1:c.460_465dup	XP_011527754.1:p.His155_Phe156insValHis
XR_937438.1:n.583_588dup
XR_937439.1:n.583_588dup
XR_937438.2:n.590_595dup
XR_937439.2:n.590_595dup
NM_001849.4:c.460_465dup MANE Select	NP_001840.3:p.His155_Phe156insValHis
NM_058174.3:c.460_465dup MANE Plus Clinical	NP_478054.2:p.His155_Phe156insValHis
NM_058175.3:c.460_465dup	NP_478055.2:p.His155_Phe156insValHis