Canonical Allele Identifier: CA2392512590
Gene: COL6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132103G= , CM000683.2:g.46132103G= GRCh38
NC_000021.8:g.47552017G= , CM000683.1:g.47552017G= GRCh37
NC_000021.7:g.46376445G= NCBI36
NG_008675.1:g.38985G= , LRG_476:g.38985G=

Transcript Alleles

HGVS Amino-acid Change
NM_001849.4:c.2611G= MANE Select NP_001840.3:p.Asp871=
ENST00000300527.9:c.2611G= MANE Select ENSP00000300527.4:p.Asp871=
NM_001849.3:c.2611G= , LRG_476t1:c.2611G= NP_001840.3:p.Asp871=
ENST00000300527.8:c.2611G= ENSP00000300527.4:p.Asp871=
XM_011529451.1:c.2611G= XP_011527753.1:p.Asp871=
XM_011529452.1:c.2611G= XP_011527754.1:p.Asp871=
XR_937438.1:n.2688G=
XR_937438.2:n.2695G=