Canonical Allele Identifier: CA1036093
Gene: HSD3B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 292267
ClinVar RCV Id: RCV000277592 RCV000916728
dbSNP Id: rs781770416
ExAC: 1:119965180 C / G
gnomAD v2: 1-119965180-C-G
gnomAD v3: 1-119422557-C-G
gnomAD v4: 1-119422557-C-G
MyVariant Identifiers: chr1:g.119965180C>G (hg19) chr1:g.119422557C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422557C>G , CM000663.2:g.119422557C>G GRCh38
NC_000001.10:g.119965180C>G , CM000663.1:g.119965180C>G GRCh37
NC_000001.9:g.119766703C>G NCBI36
NG_013349.1:g.12627C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.1056C>G MANE Select ENSP00000358424.3:p.Thr352=
ENST00000369416.3:c.1056C>G ENSP00000358424.3:p.Thr352=
ENST00000543831.5:c.1056C>G ENSP00000445122.1:p.Thr352=
NM_000198.3:c.1056C>G NP_000189.1:p.Thr352=
NM_001166120.1:c.1056C>G NP_001159592.1:p.Thr352=
NM_000198.4:c.1056C>G MANE Select NP_000189.1:p.Thr352=
NM_001166120.2:c.1056C>G NP_001159592.1:p.Thr352=
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