Canonical Allele Identifier: CA2392499459

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46114031A= , CM000683.2:g.46114031A=	GRCh38
NC_000021.8:g.47533945A= , CM000683.1:g.47533945A=	GRCh37
NC_000021.7:g.46358373A=	NCBI36
NG_008675.1:g.20913A= , LRG_476:g.20913A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.759A= MANE Plus Clinical	ENSP00000380870.1:p.Glu253=
ENST00000300527.9:c.759A= MANE Select	ENSP00000300527.4:p.Glu253=
ENST00000409416.6:c.759A=	ENSP00000387115.1:p.Glu253=
ENST00000300527.8:c.759A=	ENSP00000300527.4:p.Glu253=
ENST00000310645.9:c.759A=	ENSP00000312529.5:p.Glu253=
ENST00000397763.5:c.759A=	ENSP00000380870.1:p.Glu253=
ENST00000409416.5:c.759A=	ENSP00000387115.1:p.Glu253=
ENST00000485591.1:n.415A=
NM_001849.3:c.759A= , LRG_476t1:c.759A=	NP_001840.3:p.Glu253=
NM_058174.2:c.759A=	NP_478054.2:p.Glu253=
NM_058175.2:c.759A=	NP_478055.2:p.Glu253=
XM_011529451.1:c.759A=	XP_011527753.1:p.Glu253=
XM_011529452.1:c.759A=	XP_011527754.1:p.Glu253=
XR_937438.1:n.882A=
XR_937439.1:n.882A=
XR_937438.2:n.889A=
XR_937439.2:n.889A=
NM_001849.4:c.759A= MANE Select	NP_001840.3:p.Glu253=
NM_058174.3:c.759A= MANE Plus Clinical	NP_478054.2:p.Glu253=
NM_058175.3:c.759A=	NP_478055.2:p.Glu253=