Canonical Allele Identifier: CA2594790048
Gene: HLA-DQB1 HGNC NCBI

Linked Data

dbSNP Id: rs2151001028
gnomAD v3: 6-32659624-C-T
gnomAD v4: 6-32659624-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32659624C>T , CM000668.2:g.32659624C>T GRCh38
NC_000006.11:g.32627401C>T , CM000668.1:g.32627401C>T GRCh37
NC_000006.10:g.32735379C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000434651.7:c.*612G>A MANE Select ENSP00000407332.2:n.*612G>A
ENST00000374943.8:c.*612G>A ENSP00000364080.4:n.*612G>A
ENST00000399079.7:c.*612G>A ENSP00000382029.3:n.*612G>A
ENST00000399082.7:c.*612G>A ENSP00000382032.3:n.*612G>A
ENST00000399084.5:c.*612G>A ENSP00000382034.1:n.*612G>A
ENST00000434651.6:c.*612G>A ENSP00000407332.2:n.*612G>A
ENST00000487676.1:n.4487G>A
NM_001243961.1:c.*612G>A NP_001230890.1:n.*612G>A
NM_002123.4:c.*612G>A NP_002114.3:n.*612G>A
NM_001243961.2:c.*612G>A NP_001230890.1:n.*612G>A
NM_002123.5:c.*612G>A MANE Select NP_002114.3:n.*612G>A
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