Canonical Allele Identifier: CA767755205
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1238677736
gnomAD v3: 2-31523830-GC-G
gnomAD v4: 2-31523830-GC-G
MyVariant Identifiers: chr2:g.31748901del (hg19) chr2:g.31523831del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31523833del , CM000664.2:g.31523833del GRCh38
NC_000002.11:g.31748903del , CM000664.1:g.31748903del GRCh37
NC_000002.10:g.31602407del NCBI36
NG_008365.1:g.62141del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.*2365del MANE Select ENSP00000477587.1:n.*2365del
ENST00000622030.1:c.*2365del ENSP00000477587.1:n.*2365del
XM_011533069.1:c.*2365del XP_011531371.1:n.*2365del
XM_011533070.1:c.*2365del XP_011531372.1:n.*2365del
XM_011533071.1:c.*2365del XP_011531373.1:n.*2365del
XM_011533072.1:c.*2365del XP_011531374.1:n.*2365del
XM_011533069.2:c.*2365del XP_011531371.1:n.*2365del
XM_011533072.2:c.*2365del XP_011531374.1:n.*2365del
NM_000348.4:c.*2365del MANE Select NP_000339.2:n.*2365del
Search 100 bp 5'
Search 100 bp 3'