Canonical Allele Identifier: CA15466601
Gene: HLA-DQB2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32757416A>G
GRCh37 chr6:g.32725193A>G
gnomAD v2:
6:32725193 A / G
gnomAD v3:
6:32757416 A / G
gnomAD v4:
chr6-32757416-A-G
Joint Max Group AF 0.81422379 (EAS)
Genomes Max Group AF 0.82145022 (EAS)
Exomes Max Group AF 0.8103918 (EAS)
dbSNP:
2301271
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32757416A>G , CM000668.2:g.32757416A>G GRCh38
NC_000006.11:g.32725193A>G , CM000668.1:g.32725193A>G GRCh37
NC_000006.10:g.32833171A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000437316.7:c.758-112T>C MANE Select ENSP00000396330.2:n.758-112T>C
ENST00000411527.5:c.647-112T>C ENSP00000390431.1:n.647-112T>C
ENST00000427449.1:c.643-950T>C
ENST00000435145.6:c.758-112T>C ENSP00000410512.2:n.758-112T>C
ENST00000437316.6:c.758-112T>C ENSP00000396330.2:n.758-112T>C
NM_001198858.1:c.647-112T>C NP_001185787.1:n.647-112T>C
NM_001300790.1:c.758-112T>C NP_001287719.1:n.758-112T>C
XM_005249051.3:c.758-112T>C XP_005249108.1:n.758-112T>C
XM_011514560.1:c.757+357T>C XP_011512862.1:n.757+357T>C
XM_011514561.1:c.647-950T>C XP_011512863.1:n.647-950T>C
XM_005249051.4:c.758-112T>C XP_005249108.1:n.758-112T>C
XM_011514560.2:c.757+357T>C XP_011512862.1:n.757+357T>C
XM_011514561.3:c.647-950T>C XP_011512863.1:n.647-950T>C
NM_001300790.2:c.758-112T>C MANE Select NP_001287719.1:n.758-112T>C
NM_001198858.2:c.647-112T>C NP_001185787.1:n.647-112T>C
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