Canonical Allele Identifier: CA10073145
Gene: COL6A2 HGNC NCBI

Linked Data

dbSNP Id: rs766702836
ExAC: 21:47552432 GCTT / G
gnomAD v2: 21-47552432-GCTT-G
gnomAD v3: 21-46132518-GCTT-G
gnomAD v4: 21-46132518-GCTT-G
MyVariant Identifiers: chr21:g.47552433_47552435del (hg19) chr21:g.46132519_46132521del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46132523_46132525del , CM000683.2:g.46132523_46132525del GRCh38
NC_000021.8:g.47552437_47552439del , CM000683.1:g.47552437_47552439del GRCh37
NC_000021.7:g.46376865_46376867del NCBI36
NG_008675.1:g.39405_39407del , LRG_476:g.39405_39407del

Transcript Alleles

HGVS Amino-acid change
ENST00000300527.9:c.3031_3033del MANE Select ENSP00000300527.4:p.Phe1011del
ENST00000300527.8:c.3031_3033del ENSP00000300527.4:p.Phe1011del
NM_001849.3:c.3031_3033del , LRG_476t1:c.3031_3033del NP_001840.3:p.Phe1011del
XM_011529451.1:c.3031_3033del XP_011527753.1:p.Phe1011del
XM_011529452.1:c.3031_3033del XP_011527754.1:p.Phe1011del
XR_937438.1:n.3108_3110del
XR_937438.2:n.3115_3117del
NM_001849.4:c.3031_3033del MANE Select NP_001840.3:p.Phe1011del
Search 100 bp 5'
Search 100 bp 3'