Canonical Allele Identifier: CA12222055
Gene: NQO2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.2999495A>G
GRCh37 chr6:g.2999729A>G
gnomAD v2:
6:2999729 A / G
gnomAD v3:
6:2999495 A / G
gnomAD v4:
chr6-2999495-A-G
Joint Max Group AF 0.89065353 (AFR)
Genomes Max Group AF 0.89065353 (AFR)
dbSNP:
2070999
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.2999495A>G , CM000668.2:g.2999495A>G GRCh38
NC_000006.11:g.2999729A>G , CM000668.1:g.2999729A>G GRCh37
NC_000006.10:g.2944728A>G NCBI36
NG_034013.1:g.4680A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380472.7:c.-86+5442A>G ENSP00000369839.3:n.-86+5442A>G
ENST00000426637.5:c.-86+5442A>G ENSP00000406951.1:n.-86+5442A>G
XM_011514643.1:c.-600-2555A>G XP_011512945.1:n.-600-2555A>G
XM_011514644.1:c.-86+5442A>G XP_011512946.1:n.-86+5442A>G
XM_011514646.1:c.-86+451A>G XP_011512948.1:n.-86+451A>G
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