Canonical Allele Identifier: CA1036104
Gene: HSD3B2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119422620A>G
GRCh37 chr1:g.119965243A>G
gnomAD v2:
1:119965243 A / G
gnomAD v3:
1:119422620 A / G
gnomAD v4:
chr1-119422620-A-G
Joint Max Group AF 0.00000803 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000731 (NFE)
dbSNP:
80358218
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422620A>G , CM000663.2:g.119422620A>G GRCh38
NC_000001.10:g.119965243A>G , CM000663.1:g.119965243A>G GRCh37
NC_000001.9:g.119766766A>G NCBI36
NG_013349.1:g.12690A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.1119A>G MANE Select ENSP00000358424.3:p.Ter373Trp
ENST00000369416.3:c.1119A>G ENSP00000358424.3:p.Ter373Trp
ENST00000543831.5:c.1119A>G ENSP00000445122.1:p.Ter373Trp
NM_000198.3:c.1119A>G NP_000189.1:p.Ter373Trp
NM_001166120.1:c.1119A>G NP_001159592.1:p.Ter373Trp
NM_000198.4:c.1119A>G MANE Select NP_000189.1:p.Ter373Trp
NM_001166120.2:c.1119A>G NP_001159592.1:p.Ter373Trp
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