Canonical Allele Identifier: CA10653102
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340404
ClinVar RCV Id: RCV000352154 RCV000402262
dbSNP Id: rs886057171
gnomAD v2: 21-47552668-C-T
gnomAD v3: 21-46132754-C-T
gnomAD v4: 21-46132754-C-T
MyVariant Identifiers: chr21:g.47552668C>T (hg19) chr21:g.46132754C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132754C>T , CM000683.2:g.46132754C>T GRCh38
NC_000021.8:g.47552668C>T , CM000683.1:g.47552668C>T GRCh37
NC_000021.7:g.46377096C>T NCBI36
NG_008675.1:g.39636C>T , LRG_476:g.39636C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.*202C>T MANE Select ENSP00000300527.4:n.*202C>T
ENST00000300527.8:c.*202C>T ENSP00000300527.4:n.*202C>T
NM_001849.3:c.*202C>T , LRG_476t1:c.*202C>T NP_001840.3:n.*202C>T
XM_011529451.1:c.*202C>T XP_011527753.1:n.*202C>T
XM_011529452.1:c.*202C>T XP_011527754.1:n.*202C>T
XR_937438.1:n.3339C>T
XR_937438.2:n.3346C>T
NM_001849.4:c.*202C>T MANE Select NP_001840.3:n.*202C>T
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