Canonical Allele Identifier: CA2654968900

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46114206-C-CGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114206_46114207insGGGA , CM000683.2:g.46114206_46114207insGGGA	GRCh38
NC_000021.8:g.47534120_47534121insGGGA , CM000683.1:g.47534120_47534121insGGGA	GRCh37
NC_000021.7:g.46358548_46358549insGGGA	NCBI36
NG_008675.1:g.21088_21089insGGGA , LRG_476:g.21088_21089insGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.801+133_801+134insGGGA MANE Plus Clinical	ENSP00000380870.1:n.801+133_801+134insGGGA
ENST00000300527.9:c.801+133_801+134insGGGA MANE Select	ENSP00000300527.4:n.801+133_801+134insGGGA
ENST00000409416.6:c.801+133_801+134insGGGA	ENSP00000387115.1:n.801+133_801+134insGGGA
ENST00000300527.8:c.801+133_801+134insGGGA	ENSP00000300527.4:n.801+133_801+134insGGGA
ENST00000310645.9:c.801+133_801+134insGGGA	ENSP00000312529.5:n.801+133_801+134insGGGA
ENST00000397763.5:c.801+133_801+134insGGGA	ENSP00000380870.1:n.801+133_801+134insGGGA
ENST00000409416.5:c.801+133_801+134insGGGA	ENSP00000387115.1:n.801+133_801+134insGGGA
ENST00000485591.1:n.457+133_457+134insGGGA
NM_001849.3:c.801+133_801+134insGGGA , LRG_476t1:c.801+133_801+134insGGGA	NP_001840.3:n.801+133_801+134insGGGA
NM_058174.2:c.801+133_801+134insGGGA	NP_478054.2:n.801+133_801+134insGGGA
NM_058175.2:c.801+133_801+134insGGGA	NP_478055.2:n.801+133_801+134insGGGA
XM_011529451.1:c.801+133_801+134insGGGA	XP_011527753.1:n.801+133_801+134insGGGA
XM_011529452.1:c.801+133_801+134insGGGA	XP_011527754.1:n.801+133_801+134insGGGA
XR_937438.1:n.924+133_924+134insGGGA
XR_937439.1:n.924+133_924+134insGGGA
XR_937438.2:n.931+133_931+134insGGGA
XR_937439.2:n.931+133_931+134insGGGA
NM_001849.4:c.801+133_801+134insGGGA MANE Select	NP_001840.3:n.801+133_801+134insGGGA
NM_058174.3:c.801+133_801+134insGGGA MANE Plus Clinical	NP_478054.2:n.801+133_801+134insGGGA
NM_058175.3:c.801+133_801+134insGGGA	NP_478055.2:n.801+133_801+134insGGGA