Canonical Allele Identifier: CA2392499242

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46113594_46113595delinsTA , CM000683.2:g.46113594_46113595delinsTA	GRCh38
NC_000021.8:g.47533508_47533509delinsTA , CM000683.1:g.47533508_47533509delinsTA	GRCh37
NC_000021.7:g.46357936_46357937delinsTA	NCBI36
NG_008675.1:g.20476_20477delinsTA , LRG_476:g.20476_20477delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.736-414_736-413delinsTA MANE Plus Clinical	ENSP00000380870.1:n.736-414_736-413delinsTA
ENST00000300527.9:c.736-414_736-413delinsTA MANE Select	ENSP00000300527.4:n.736-414_736-413delinsTA
ENST00000409416.6:c.736-414_736-413delinsTA	ENSP00000387115.1:n.736-414_736-413delinsTA
ENST00000300527.8:c.736-414_736-413delinsTA	ENSP00000300527.4:n.736-414_736-413delinsTA
ENST00000310645.9:c.736-414_736-413delinsTA	ENSP00000312529.5:n.736-414_736-413delinsTA
ENST00000397763.5:c.736-414_736-413delinsTA	ENSP00000380870.1:n.736-414_736-413delinsTA
ENST00000409416.5:c.736-414_736-413delinsTA	ENSP00000387115.1:n.736-414_736-413delinsTA
NM_001849.3:c.736-414_736-413delinsTA , LRG_476t1:c.736-414_736-413delinsTA	NP_001840.3:n.736-414_736-413delinsTA
NM_058174.2:c.736-414_736-413delinsTA	NP_478054.2:n.736-414_736-413delinsTA
NM_058175.2:c.736-414_736-413delinsTA	NP_478055.2:n.736-414_736-413delinsTA
XM_011529451.1:c.736-414_736-413delinsTA	XP_011527753.1:n.736-414_736-413delinsTA
XM_011529452.1:c.736-414_736-413delinsTA	XP_011527754.1:n.736-414_736-413delinsTA
XR_937438.1:n.859-414_859-413delinsTA
XR_937439.1:n.859-414_859-413delinsTA
XR_937438.2:n.866-414_866-413delinsTA
XR_937439.2:n.866-414_866-413delinsTA
NM_001849.4:c.736-414_736-413delinsTA MANE Select	NP_001840.3:n.736-414_736-413delinsTA
NM_058174.3:c.736-414_736-413delinsTA MANE Plus Clinical	NP_478054.2:n.736-414_736-413delinsTA
NM_058175.3:c.736-414_736-413delinsTA	NP_478055.2:n.736-414_736-413delinsTA