Canonical Allele Identifier: CA10653722
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340403
ClinVar RCV Id: RCV000278605 RCV000373138 RCV000397434 RCV001711967
dbSNP Id: rs11554666
gnomAD v2: 21-47552624-C-T
gnomAD v3: 21-46132710-C-T
gnomAD v4: 21-46132710-C-T
MyVariant Identifiers: chr21:g.47552624C>T (hg19) chr21:g.46132710C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132710C>T , CM000683.2:g.46132710C>T GRCh38
NC_000021.8:g.47552624C>T , CM000683.1:g.47552624C>T GRCh37
NC_000021.7:g.46377052C>T NCBI36
NG_008675.1:g.39592C>T , LRG_476:g.39592C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000300527.9:c.*158C>T MANE Select ENSP00000300527.4:n.*158C>T
ENST00000300527.8:c.*158C>T ENSP00000300527.4:n.*158C>T
NM_001849.3:c.*158C>T , LRG_476t1:c.*158C>T NP_001840.3:n.*158C>T
XM_011529451.1:c.*158C>T XP_011527753.1:n.*158C>T
XM_011529452.1:c.*158C>T XP_011527754.1:n.*158C>T
XR_937438.1:n.3295C>T
XR_937438.2:n.3302C>T
NM_001849.4:c.*158C>T MANE Select NP_001840.3:n.*158C>T
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