Canonical Allele Identifier: CA2392504188

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121590G= , CM000683.2:g.46121590G=	GRCh38
NC_000021.8:g.47541504G= , CM000683.1:g.47541504G=	GRCh37
NC_000021.7:g.46365932G=	NCBI36
NG_008675.1:g.28472G= , LRG_476:g.28472G=

Transcript Alleles

HGVS	Amino-acid Change
NM_001849.4:c.1493G= MANE Select	NP_001840.3:p.Arg498=
ENST00000300527.9:c.1493G= MANE Select	ENSP00000300527.4:p.Arg498=
NM_058174.3:c.1493G= MANE Plus Clinical	NP_478054.2:p.Arg498=
ENST00000397763.6:c.1493G= MANE Plus Clinical	ENSP00000380870.1:p.Arg498=
NM_001849.3:c.1493G= , LRG_476t1:c.1493G=	NP_001840.3:p.Arg498=
NM_058174.2:c.1493G=	NP_478054.2:p.Arg498=
NM_058175.2:c.1493G=	NP_478055.2:p.Arg498=
NM_058175.3:c.1493G=	NP_478055.2:p.Arg498=
ENST00000300527.8:c.1493G=	ENSP00000300527.4:p.Arg498=
ENST00000310645.9:c.1493G=	ENSP00000312529.5:p.Arg498=
ENST00000397763.5:c.1493G=	ENSP00000380870.1:p.Arg498=
ENST00000409416.5:c.1493G=	ENSP00000387115.1:p.Arg498=
ENST00000409416.6:c.1493G=	ENSP00000387115.1:p.Arg498=
ENST00000413758.1:c.116G=	ENSP00000395751.1:p.Arg39=
XM_011529451.1:c.1493G=	XP_011527753.1:p.Arg498=
XM_011529452.1:c.1493G=	XP_011527754.1:p.Arg498=
XR_937438.1:n.1616G=
XR_937438.2:n.1623G=
XR_937439.1:n.1616G=
XR_937439.2:n.1623G=