Canonical Allele Identifier: CA10650719
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340401
ClinVar RCV Id: RCV000321862 RCV000376550
dbSNP Id: rs774514501
gnomAD v2: 21-47552605-G-A
gnomAD v3: 21-46132691-G-A
gnomAD v4: 21-46132691-G-A
MyVariant Identifiers: chr21:g.47552605G>A (hg19) chr21:g.46132691G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132691G>A , CM000683.2:g.46132691G>A GRCh38
NC_000021.8:g.47552605G>A , CM000683.1:g.47552605G>A GRCh37
NC_000021.7:g.46377033G>A NCBI36
NG_008675.1:g.39573G>A , LRG_476:g.39573G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300527.9:c.*139G>A MANE Select ENSP00000300527.4:n.*139G>A
ENST00000300527.8:c.*139G>A ENSP00000300527.4:n.*139G>A
NM_001849.3:c.*139G>A , LRG_476t1:c.*139G>A NP_001840.3:n.*139G>A
XM_011529451.1:c.*139G>A XP_011527753.1:n.*139G>A
XM_011529452.1:c.*139G>A XP_011527754.1:n.*139G>A
XR_937438.1:n.3276G>A
XR_937438.2:n.3283G>A
NM_001849.4:c.*139G>A MANE Select NP_001840.3:n.*139G>A
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