Canonical Allele Identifier: CA152462
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128815
dbSNP Id: rs117931394

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132472G>A , CM000683.2:g.46132472G>A GRCh38
NC_000021.8:g.47552386G>A , CM000683.1:g.47552386G>A GRCh37
NC_000021.7:g.46376814G>A NCBI36
NG_008675.1:g.39354G>A , LRG_476:g.39354G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300527.9:c.2980G>A MANE Select ENSP00000300527.4:p.Ala994Thr
ENST00000300527.8:c.2980G>A ENSP00000300527.4:p.Ala994Thr
NM_001849.3:c.2980G>A , LRG_476t1:c.2980G>A NP_001840.3:p.Ala994Thr
XM_011529451.1:c.2980G>A XP_011527753.1:p.Ala994Thr
XM_011529452.1:c.2980G>A XP_011527754.1:p.Ala994Thr
XR_937438.1:n.3057G>A
XR_937438.2:n.3064G>A
NM_001849.4:c.2980G>A MANE Select NP_001840.3:p.Ala994Thr