Canonical Allele Identifier: CA10072935
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 281054
ClinVar RCV Id: RCV000285371 RCV000377482 RCV000400296 RCV001087885
dbSNP Id: rs373813975
ExAC: 21:47551988 G / A
gnomAD v2: 21-47551988-G-A
gnomAD v3: 21-46132074-G-A
gnomAD v4: 21-46132074-G-A
MyVariant Identifiers: chr21:g.47551988G>A (hg19) chr21:g.46132074G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132074G>A , CM000683.2:g.46132074G>A GRCh38
NC_000021.8:g.47551988G>A , CM000683.1:g.47551988G>A GRCh37
NC_000021.7:g.46376416G>A NCBI36
NG_008675.1:g.38956G>A , LRG_476:g.38956G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300527.9:c.2582G>A MANE Select ENSP00000300527.4:p.Arg861Gln
ENST00000300527.8:c.2582G>A ENSP00000300527.4:p.Arg861Gln
NM_001849.3:c.2582G>A , LRG_476t1:c.2582G>A NP_001840.3:p.Arg861Gln
XM_011529451.1:c.2582G>A XP_011527753.1:p.Arg861Gln
XM_011529452.1:c.2582G>A XP_011527754.1:p.Arg861Gln
XR_937438.1:n.2659G>A
XR_937438.2:n.2666G>A
NM_001849.4:c.2582G>A MANE Select NP_001840.3:p.Arg861Gln
Search 100 bp 5'
Search 100 bp 3'