Canonical Allele Identifier: CA2392512603
Community Standard Title: NM_001849.4(COL6A2):c.2633C= (p.Ala878=)
Gene: COL6A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132125C= , CM000683.2:g.46132125C= GRCh38
NC_000021.8:g.47552039C= , CM000683.1:g.47552039C= GRCh37
NC_000021.7:g.46376467C= NCBI36
NG_008675.1:g.39007C= , LRG_476:g.39007C=

Transcript Alleles

HGVS Amino-acid Change
NM_001849.4:c.2633C= MANE Select NP_001840.3:p.Ala878=
ENST00000300527.9:c.2633C= MANE Select ENSP00000300527.4:p.Ala878=
NM_001849.3:c.2633C= , LRG_476t1:c.2633C= NP_001840.3:p.Ala878=
ENST00000300527.8:c.2633C= ENSP00000300527.4:p.Ala878=
XM_011529451.1:c.2633C= XP_011527753.1:p.Ala878=
XM_011529452.1:c.2633C= XP_011527754.1:p.Ala878=
XR_937438.1:n.2710C=
XR_937438.2:n.2717C=