Canonical Allele Identifier: CA2392512547
Gene: COL6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132050G= , CM000683.2:g.46132050G= GRCh38
NC_000021.8:g.47551964G= , CM000683.1:g.47551964G= GRCh37
NC_000021.7:g.46376392G= NCBI36
NG_008675.1:g.38932G= , LRG_476:g.38932G=

Transcript Alleles

HGVS Amino-acid Change
NM_001849.4:c.2558G= MANE Select NP_001840.3:p.Arg853=
ENST00000300527.9:c.2558G= MANE Select ENSP00000300527.4:p.Arg853=
NM_001849.3:c.2558G= , LRG_476t1:c.2558G= NP_001840.3:p.Arg853=
ENST00000300527.8:c.2558G= ENSP00000300527.4:p.Arg853=
XM_011529451.1:c.2558G= XP_011527753.1:p.Arg853=
XM_011529452.1:c.2558G= XP_011527754.1:p.Arg853=
XR_937438.1:n.2635G=
XR_937438.2:n.2642G=