Canonical Allele Identifier: CA341398201
Gene: HSD3B2 HGNC NCBI

Linked Data

dbSNP Id: rs1651908634
MyVariant Identifiers: chr1:g.119964872G>A (hg19) chr1:g.119422249G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422249G>A , CM000663.2:g.119422249G>A GRCh38
NC_000001.10:g.119964872G>A , CM000663.1:g.119964872G>A GRCh37
NC_000001.9:g.119766395G>A NCBI36
NG_013349.1:g.12319G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.748G>A MANE Select ENSP00000358424.3:p.Gly250Ser
ENST00000369416.3:c.748G>A ENSP00000358424.3:p.Gly250Ser
ENST00000543831.5:c.748G>A ENSP00000445122.1:p.Gly250Ser
NM_000198.3:c.748G>A NP_000189.1:p.Gly250Ser
NM_001166120.1:c.748G>A NP_001159592.1:p.Gly250Ser
NM_000198.4:c.748G>A MANE Select NP_000189.1:p.Gly250Ser
NM_001166120.2:c.748G>A NP_001159592.1:p.Gly250Ser
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