Canonical Allele Identifier: CA420187433
Gene: HSD3B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.119964868C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422245C>G , CM000663.2:g.119422245C>G GRCh38
NC_000001.10:g.119964868C>G , CM000663.1:g.119964868C>G GRCh37
NC_000001.9:g.119766391C>G NCBI36
NG_013349.1:g.12315C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369416.4:c.744C>G MANE Select ENSP00000358424.3:p.Val248=
ENST00000369416.3:c.744C>G ENSP00000358424.3:p.Val248=
ENST00000543831.5:c.744C>G ENSP00000445122.1:p.Val248=
NM_000198.3:c.744C>G NP_000189.1:p.Val248=
NM_001166120.1:c.744C>G NP_001159592.1:p.Val248=
NM_000198.4:c.744C>G MANE Select NP_000189.1:p.Val248=
NM_001166120.2:c.744C>G NP_001159592.1:p.Val248=
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