Canonical Allele Identifier: CA2818100879

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46113713_46113714insGG , CM000683.2:g.46113713_46113714insGG	GRCh38
NC_000021.8:g.47533627_47533628insGG , CM000683.1:g.47533627_47533628insGG	GRCh37
NC_000021.7:g.46358055_46358056insGG	NCBI36
NG_008675.1:g.20595_20596insGG , LRG_476:g.20595_20596insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.736-295_736-294insGG MANE Plus Clinical	ENSP00000380870.1:n.736-295_736-294insGG
ENST00000300527.9:c.736-295_736-294insGG MANE Select	ENSP00000300527.4:n.736-295_736-294insGG
ENST00000409416.6:c.736-295_736-294insGG	ENSP00000387115.1:n.736-295_736-294insGG
ENST00000300527.8:c.736-295_736-294insGG	ENSP00000300527.4:n.736-295_736-294insGG
ENST00000310645.9:c.736-295_736-294insGG	ENSP00000312529.5:n.736-295_736-294insGG
ENST00000397763.5:c.736-295_736-294insGG	ENSP00000380870.1:n.736-295_736-294insGG
ENST00000409416.5:c.736-295_736-294insGG	ENSP00000387115.1:n.736-295_736-294insGG
ENST00000485591.1:n.97_98insGG
NM_001849.3:c.736-295_736-294insGG , LRG_476t1:c.736-295_736-294insGG	NP_001840.3:n.736-295_736-294insGG
NM_058174.2:c.736-295_736-294insGG	NP_478054.2:n.736-295_736-294insGG
NM_058175.2:c.736-295_736-294insGG	NP_478055.2:n.736-295_736-294insGG
XM_011529451.1:c.736-295_736-294insGG	XP_011527753.1:n.736-295_736-294insGG
XM_011529452.1:c.736-295_736-294insGG	XP_011527754.1:n.736-295_736-294insGG
XR_937438.1:n.859-295_859-294insGG
XR_937439.1:n.859-295_859-294insGG
XR_937438.2:n.866-295_866-294insGG
XR_937439.2:n.866-295_866-294insGG
NM_001849.4:c.736-295_736-294insGG MANE Select	NP_001840.3:n.736-295_736-294insGG
NM_058174.3:c.736-295_736-294insGG MANE Plus Clinical	NP_478054.2:n.736-295_736-294insGG
NM_058175.3:c.736-295_736-294insGG	NP_478055.2:n.736-295_736-294insGG