Canonical Allele Identifier: CA10687399
Gene: GATAD2B HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.153801800T>C
GRCh37 chr1:g.153774276T>C
gnomAD v2:
1:153774276 T / C
gnomAD v3:
1:153801800 T / C
gnomAD v4:
chr1-153801800-T-C
Joint Max Group AF 0.82474163 (NFE)
Genomes Max Group AF 0.82468659 (NFE)
Exomes Max Group AF 0.75559306 (NFE)
dbSNP:
4434872
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153801800T>C , CM000663.2:g.153801800T>C GRCh38
NC_000001.10:g.153774276T>C , CM000663.1:g.153774276T>C GRCh37
NC_000001.9:g.152040900T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000637918.1:c.135+9931A>G
ENST00000427283.1:n.1961+3T>C
XM_011510286.1:c.*65T>C XP_011508588.1:n.*65T>C
XR_922158.1:n.1234T>C
XR_922159.1:n.1234T>C
XM_017003084.2:c.*1173T>C XP_016858573.1:n.*1173T>C
XM_017003085.2:c.*1259T>C XP_016858574.1:n.*1259T>C
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