Canonical Allele Identifier: CA2577629656

Gene: COL6A2

Linked Data

• gnomAD v4: 21-46122010-A-ACTTCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122012_46122018dup , CM000683.2:g.46122012_46122018dup	GRCh38
NC_000021.8:g.47541926_47541932dup , CM000683.1:g.47541926_47541932dup	GRCh37
NC_000021.7:g.46366354_46366360dup	NCBI36
NG_008675.1:g.28894_28900dup , LRG_476:g.28894_28900dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1522-96_1522-90dup MANE Plus Clinical	ENSP00000380870.1:n.1522-96_1522-90dup
ENST00000300527.9:c.1522-96_1522-90dup MANE Select	ENSP00000300527.4:n.1522-96_1522-90dup
ENST00000409416.6:c.1522-96_1522-90dup	ENSP00000387115.1:n.1522-96_1522-90dup
ENST00000300527.8:c.1522-96_1522-90dup	ENSP00000300527.4:n.1522-96_1522-90dup
ENST00000310645.9:c.1522-96_1522-90dup	ENSP00000312529.5:n.1522-96_1522-90dup
ENST00000397763.5:c.1522-96_1522-90dup	ENSP00000380870.1:n.1522-96_1522-90dup
ENST00000409416.5:c.1522-96_1522-90dup	ENSP00000387115.1:n.1522-96_1522-90dup
ENST00000413758.1:c.145-96_145-90dup	ENSP00000395751.1:n.145-96_145-90dup
NM_001849.3:c.1522-96_1522-90dup , LRG_476t1:c.1522-96_1522-90dup	NP_001840.3:n.1522-96_1522-90dup
NM_058174.2:c.1522-96_1522-90dup	NP_478054.2:n.1522-96_1522-90dup
NM_058175.2:c.1522-96_1522-90dup	NP_478055.2:n.1522-96_1522-90dup
XM_011529451.1:c.1522-96_1522-90dup	XP_011527753.1:n.1522-96_1522-90dup
XM_011529452.1:c.1522-96_1522-90dup	XP_011527754.1:n.1522-96_1522-90dup
XR_937438.1:n.1645-96_1645-90dup
XR_937439.1:n.1645-96_1645-90dup
XR_937438.2:n.1652-96_1652-90dup
XR_937439.2:n.1652-96_1652-90dup
NM_001849.4:c.1522-96_1522-90dup MANE Select	NP_001840.3:n.1522-96_1522-90dup
NM_058174.3:c.1522-96_1522-90dup MANE Plus Clinical	NP_478054.2:n.1522-96_1522-90dup
NM_058175.3:c.1522-96_1522-90dup	NP_478055.2:n.1522-96_1522-90dup