Canonical Allele Identifier: CA121935
Gene: HSD3B2 HGNC NCBI
COSMIC:
COSM894661
MyVariant.info:
GRCh38 chr1:g.119422277C>T
GRCh37 chr1:g.119964900C>T
Revel Score:
ENST00000543831 0.900
ENST00000369416 (MANE Select) 0.900
gnomAD v2:
1:119964900 C / T
gnomAD v3:
1:119422277 C / T
gnomAD v4:
chr1-119422277-C-T
Joint Max Group AF 0.00000443 (AFR)
Exomes Max Group AF 8.4e-7 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.119422277C>T , CM000663.2:g.119422277C>T GRCh38
NC_000001.10:g.119964900C>T , CM000663.1:g.119964900C>T GRCh37
NC_000001.9:g.119766423C>T NCBI36
NG_013349.1:g.12347C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369416.4:c.776C>T MANE Select ENSP00000358424.3:p.Thr259Met
ENST00000369416.3:c.776C>T ENSP00000358424.3:p.Thr259Met
ENST00000543831.5:c.776C>T ENSP00000445122.1:p.Thr259Met
NM_000198.3:c.776C>T NP_000189.1:p.Thr259Met
NM_001166120.1:c.776C>T NP_001159592.1:p.Thr259Met
NM_000198.4:c.776C>T MANE Select NP_000189.1:p.Thr259Met
NM_001166120.2:c.776C>T NP_001159592.1:p.Thr259Met
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