Canonical Allele Identifier: CA2392512904

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46132511C= , CM000683.2:g.46132511C=	GRCh38
NC_000021.8:g.47552425C= , CM000683.1:g.47552425C=	GRCh37
NC_000021.7:g.46376853C=	NCBI36
NG_008675.1:g.39393C= , LRG_476:g.39393C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000300527.9:c.3019C= MANE Select	ENSP00000300527.4:p.Gln1007=
ENST00000300527.8:c.3019C=	ENSP00000300527.4:p.Gln1007=
NM_001849.3:c.3019C= , LRG_476t1:c.3019C=	NP_001840.3:p.Gln1007=
XM_011529451.1:c.3019C=	XP_011527753.1:p.Gln1007=
XM_011529452.1:c.3019C=	XP_011527754.1:p.Gln1007=
XR_937438.1:n.3096C=
XR_937438.2:n.3103C=
NM_001849.4:c.3019C= MANE Select	NP_001840.3:p.Gln1007=