Canonical Allele Identifier: CA2392499258

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46113616_46113617delinsGA , CM000683.2:g.46113616_46113617delinsGA	GRCh38
NC_000021.8:g.47533530_47533531delinsGA , CM000683.1:g.47533530_47533531delinsGA	GRCh37
NC_000021.7:g.46357958_46357959delinsGA	NCBI36
NG_008675.1:g.20498_20499delinsGA , LRG_476:g.20498_20499delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.736-392_736-391delinsGA MANE Plus Clinical	ENSP00000380870.1:n.736-392_736-391delinsGA
ENST00000300527.9:c.736-392_736-391delinsGA MANE Select	ENSP00000300527.4:n.736-392_736-391delinsGA
ENST00000409416.6:c.736-392_736-391delinsGA	ENSP00000387115.1:n.736-392_736-391delinsGA
ENST00000300527.8:c.736-392_736-391delinsGA	ENSP00000300527.4:n.736-392_736-391delinsGA
ENST00000310645.9:c.736-392_736-391delinsGA	ENSP00000312529.5:n.736-392_736-391delinsGA
ENST00000397763.5:c.736-392_736-391delinsGA	ENSP00000380870.1:n.736-392_736-391delinsGA
ENST00000409416.5:c.736-392_736-391delinsGA	ENSP00000387115.1:n.736-392_736-391delinsGA
NM_001849.3:c.736-392_736-391delinsGA , LRG_476t1:c.736-392_736-391delinsGA	NP_001840.3:n.736-392_736-391delinsGA
NM_058174.2:c.736-392_736-391delinsGA	NP_478054.2:n.736-392_736-391delinsGA
NM_058175.2:c.736-392_736-391delinsGA	NP_478055.2:n.736-392_736-391delinsGA
XM_011529451.1:c.736-392_736-391delinsGA	XP_011527753.1:n.736-392_736-391delinsGA
XM_011529452.1:c.736-392_736-391delinsGA	XP_011527754.1:n.736-392_736-391delinsGA
XR_937438.1:n.859-392_859-391delinsGA
XR_937439.1:n.859-392_859-391delinsGA
XR_937438.2:n.866-392_866-391delinsGA
XR_937439.2:n.866-392_866-391delinsGA
NM_001849.4:c.736-392_736-391delinsGA MANE Select	NP_001840.3:n.736-392_736-391delinsGA
NM_058174.3:c.736-392_736-391delinsGA MANE Plus Clinical	NP_478054.2:n.736-392_736-391delinsGA
NM_058175.3:c.736-392_736-391delinsGA	NP_478055.2:n.736-392_736-391delinsGA