Canonical Allele Identifier: CA2392504775

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46122520C= , CM000683.2:g.46122520C=	GRCh38
NC_000021.8:g.47542434C= , CM000683.1:g.47542434C=	GRCh37
NC_000021.7:g.46366862C=	NCBI36
NG_008675.1:g.29402C= , LRG_476:g.29402C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1597C= MANE Plus Clinical	ENSP00000380870.1:p.Arg533=
ENST00000300527.9:c.1597C= MANE Select	ENSP00000300527.4:p.Arg533=
ENST00000409416.6:c.1597C=	ENSP00000387115.1:p.Arg533=
ENST00000300527.8:c.1597C=	ENSP00000300527.4:p.Arg533=
ENST00000310645.9:c.1597C=	ENSP00000312529.5:p.Arg533=
ENST00000397763.5:c.1597C=	ENSP00000380870.1:p.Arg533=
ENST00000409416.5:c.1597C=	ENSP00000387115.1:p.Arg533=
ENST00000413758.1:c.220C=	ENSP00000395751.1:p.Arg74=
NM_001849.3:c.1597C= , LRG_476t1:c.1597C=	NP_001840.3:p.Arg533=
NM_058174.2:c.1597C=	NP_478054.2:p.Arg533=
NM_058175.2:c.1597C=	NP_478055.2:p.Arg533=
XM_011529451.1:c.1597C=	XP_011527753.1:p.Arg533=
XM_011529452.1:c.1597C=	XP_011527754.1:p.Arg533=
XR_937438.1:n.1720C=
XR_937439.1:n.1720C=
XR_937438.2:n.1727C=
XR_937439.2:n.1727C=
NM_001849.4:c.1597C= MANE Select	NP_001840.3:p.Arg533=
NM_058174.3:c.1597C= MANE Plus Clinical	NP_478054.2:p.Arg533=
NM_058175.3:c.1597C=	NP_478055.2:p.Arg533=