Canonical Allele Identifier: CA121933
Gene: HSD3B2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.119422165C>A
GRCh37 chr1:g.119964788C>A
Revel Score:
ENST00000543831 0.900
ENST00000369416 (MANE Select) 0.900
ClinVar RCV:
RCV000012974
RCV002271368
ClinVar Variation:
12191
dbSNP:
80358220
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422165C>A , CM000663.2:g.119422165C>A GRCh38
NC_000001.10:g.119964788C>A , CM000663.1:g.119964788C>A GRCh37
NC_000001.9:g.119766311C>A NCBI36
NG_013349.1:g.12235C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.664C>A MANE Select ENSP00000358424.3:p.Pro222Thr
ENST00000369416.3:c.664C>A ENSP00000358424.3:p.Pro222Thr
ENST00000543831.5:c.664C>A ENSP00000445122.1:p.Pro222Thr
NM_000198.3:c.664C>A NP_000189.1:p.Pro222Thr
NM_001166120.1:c.664C>A NP_001159592.1:p.Pro222Thr
NM_000198.4:c.664C>A MANE Select NP_000189.1:p.Pro222Thr
NM_001166120.2:c.664C>A NP_001159592.1:p.Pro222Thr
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