Canonical Allele Identifier: CA410549006
Gene: COL6A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132177C>G , CM000683.2:g.46132177C>G GRCh38
NC_000021.8:g.47552091C>G , CM000683.1:g.47552091C>G GRCh37
NC_000021.7:g.46376519C>G NCBI36
NG_008675.1:g.39059C>G , LRG_476:g.39059C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.2685C>G MANE Select ENSP00000300527.4:p.Ser895Arg
ENST00000300527.8:c.2685C>G ENSP00000300527.4:p.Ser895Arg
NM_001849.3:c.2685C>G , LRG_476t1:c.2685C>G NP_001840.3:p.Ser895Arg
XM_011529451.1:c.2685C>G XP_011527753.1:p.Ser895Arg
XM_011529452.1:c.2685C>G XP_011527754.1:p.Ser895Arg
XR_937438.1:n.2762C>G
XR_937438.2:n.2769C>G
NM_001849.4:c.2685C>G MANE Select NP_001840.3:p.Ser895Arg