Canonical Allele Identifier: CA2392507529

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46125735_46125736delinsGC , CM000683.2:g.46125735_46125736delinsGC	GRCh38
NC_000021.8:g.47545649_47545650delinsGC , CM000683.1:g.47545649_47545650delinsGC	GRCh37
NC_000021.7:g.46370077_46370078delinsGC	NCBI36
NG_008675.1:g.32617_32618delinsGC , LRG_476:g.32617_32618delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1970-50_1970-49delinsGC MANE Plus Clinical	ENSP00000380870.1:n.1970-50_1970-49delinsGC
ENST00000300527.9:c.1970-50_1970-49delinsGC MANE Select	ENSP00000300527.4:n.1970-50_1970-49delinsGC
ENST00000409416.6:c.1970-50_1970-49delinsGC	ENSP00000387115.1:n.1970-50_1970-49delinsGC
ENST00000300527.8:c.1970-50_1970-49delinsGC	ENSP00000300527.4:n.1970-50_1970-49delinsGC
ENST00000310645.9:c.1970-50_1970-49delinsGC	ENSP00000312529.5:n.1970-50_1970-49delinsGC
ENST00000397763.5:c.1970-50_1970-49delinsGC	ENSP00000380870.1:n.1970-50_1970-49delinsGC
ENST00000409416.5:c.1970-50_1970-49delinsGC	ENSP00000387115.1:n.1970-50_1970-49delinsGC
ENST00000413758.1:c.641-50_641-49delinsGC	ENSP00000395751.1:n.641-50_641-49delinsGC
NM_001849.3:c.1970-50_1970-49delinsGC , LRG_476t1:c.1970-50_1970-49delinsGC	NP_001840.3:n.1970-50_1970-49delinsGC
NM_058174.2:c.1970-50_1970-49delinsGC	NP_478054.2:n.1970-50_1970-49delinsGC
NM_058175.2:c.1970-50_1970-49delinsGC	NP_478055.2:n.1970-50_1970-49delinsGC
XM_011529451.1:c.1970-50_1970-49delinsGC	XP_011527753.1:n.1970-50_1970-49delinsGC
XM_011529452.1:c.1970-50_1970-49delinsGC	XP_011527754.1:n.1970-50_1970-49delinsGC
XR_937438.1:n.2047-50_2047-49delinsGC
XR_937439.1:n.2047-50_2047-49delinsGC
XR_937438.2:n.2054-50_2054-49delinsGC
XR_937439.2:n.2054-50_2054-49delinsGC
NM_001849.4:c.1970-50_1970-49delinsGC MANE Select	NP_001840.3:n.1970-50_1970-49delinsGC
NM_058174.3:c.1970-50_1970-49delinsGC MANE Plus Clinical	NP_478054.2:n.1970-50_1970-49delinsGC
NM_058175.3:c.1970-50_1970-49delinsGC	NP_478055.2:n.1970-50_1970-49delinsGC