Canonical Allele Identifier: CA2749375024
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529475_31529476del , CM000664.2:g.31529475_31529476del GRCh38
NC_000002.11:g.31754545_31754546del , CM000664.1:g.31754545_31754546del GRCh37
NC_000002.10:g.31608049_31608050del NCBI36
NG_008365.1:g.56496_56497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.548-19_548-18del MANE Select ENSP00000477587.1:n.548-19_548-18del
ENST00000622030.1:c.548-19_548-18del ENSP00000477587.1:n.548-19_548-18del
NM_000348.3:c.548-19_548-18del NP_000339.2:n.548-19_548-18del
XM_011533069.1:c.326-19_326-18del XP_011531371.1:n.326-19_326-18del
XM_011533070.1:c.293-19_293-18del XP_011531372.1:n.293-19_293-18del
XM_011533071.1:c.293-19_293-18del XP_011531373.1:n.293-19_293-18del
XM_011533072.1:c.293-19_293-18del XP_011531374.1:n.293-19_293-18del
XM_011533069.2:c.326-19_326-18del XP_011531371.1:n.326-19_326-18del
XM_011533072.2:c.293-19_293-18del XP_011531374.1:n.293-19_293-18del
NM_000348.4:c.548-19_548-18del MANE Select NP_000339.2:n.548-19_548-18del