Canonical Allele Identifier: CA531723292
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1469915704
gnomAD v2: 2-31805367-TC-T
gnomAD v3: 2-31580297-TC-T
gnomAD v4: 2-31580297-TC-T
MyVariant Identifiers: chr2:g.31805368del (hg19) chr2:g.31580298del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580301del , CM000664.2:g.31580301del GRCh38
NC_000002.11:g.31805371del , CM000664.1:g.31805371del GRCh37
NC_000002.10:g.31658875del NCBI36
NG_008365.1:g.5674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+322del MANE Select ENSP00000477587.1:n.281+322del
ENST00000622030.1:c.281+322del ENSP00000477587.1:n.281+322del
NM_000348.3:c.281+322del NP_000339.2:n.281+322del
XM_011533068.1:c.281+322del XP_011531370.1:n.281+322del
XM_011533070.1:c.27-46532del XP_011531372.1:n.27-46532del
XM_011533071.1:c.27-46532del XP_011531373.1:n.27-46532del
XM_011533072.1:c.27-46532del XP_011531374.1:n.27-46532del
XM_011533072.2:c.27-46532del XP_011531374.1:n.27-46532del
NM_000348.4:c.281+322del MANE Select NP_000339.2:n.281+322del
Search 100 bp 5'
Search 100 bp 3'