Canonical Allele Identifier: CA10653098
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340397
dbSNP Id: rs185393384

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132658G>A , CM000683.2:g.46132658G>A GRCh38
NC_000021.8:g.47552572G>A , CM000683.1:g.47552572G>A GRCh37
NC_000021.7:g.46377000G>A NCBI36
NG_008675.1:g.39540G>A , LRG_476:g.39540G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.*106G>A MANE Select ENSP00000300527.4:n.*106G>A
ENST00000300527.8:c.*106G>A ENSP00000300527.4:n.*106G>A
NM_001849.3:c.*106G>A , LRG_476t1:c.*106G>A NP_001840.3:n.*106G>A
XM_011529451.1:c.*106G>A XP_011527753.1:n.*106G>A
XM_011529452.1:c.*106G>A XP_011527754.1:n.*106G>A
XR_937438.1:n.3243G>A
XR_937438.2:n.3250G>A
NM_001849.4:c.*106G>A MANE Select NP_001840.3:n.*106G>A