Canonical Allele Identifier: CA767788590
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1362980557
gnomAD v3: 2-31580972-GCGCCAGA-G
gnomAD v4: 2-31580972-GCGCCAGA-G
MyVariant Identifiers: chr2:g.31806042_31806048del (hg19) chr2:g.31580973_31580979del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580978_31580984del , CM000664.2:g.31580978_31580984del GRCh38
NC_000002.11:g.31806047_31806053del , CM000664.1:g.31806047_31806053del GRCh37
NC_000002.10:g.31659551_31659557del NCBI36
NG_008365.1:g.4993_4999del

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.1:c.-79_-73del ENSP00000477587.1:n.-79_-73del
XM_011533068.1:c.-79_-73del XP_011531370.1:n.-79_-73del
XM_011533070.1:c.27-47213_27-47207del XP_011531372.1:n.27-47213_27-47207del
XM_011533071.1:c.27-47213_27-47207del XP_011531373.1:n.27-47213_27-47207del
XM_011533072.1:c.27-47213_27-47207del XP_011531374.1:n.27-47213_27-47207del
XM_011533072.2:c.27-47213_27-47207del XP_011531374.1:n.27-47213_27-47207del
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