Canonical Allele Identifier: CA425570952
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs575917234
gnomAD v2: 2-31792524-G-GTATA
gnomAD v3: 2-31567454-G-GTATA
gnomAD v4: 2-31567454-G-GTATA
MyVariant Identifiers: chr2:g.31792526_31792528delinsATATGTA (hg19) chr2:g.31792524_31792525insTATA (hg19) chr2:g.31567456_31567458delinsATATGTA (hg38) chr2:g.31567454_31567455insTATA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31567455_31567456insATAT , CM000664.2:g.31567455_31567456insATAT GRCh38
NC_000002.11:g.31792525_31792526insATAT , CM000664.1:g.31792525_31792526insATAT GRCh37
NC_000002.10:g.31646029_31646030insATAT NCBI36
NG_008365.1:g.18517_18518insTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+13165_281+13166insTATA MANE Select ENSP00000477587.1:n.281+13165_281+13166insTATA
ENST00000622030.1:c.281+13165_281+13166insTATA ENSP00000477587.1:n.281+13165_281+13166insTATA
NM_000348.3:c.281+13165_281+13166insTATA NP_000339.2:n.281+13165_281+13166insTATA
XM_011533068.1:c.281+13165_281+13166insTATA XP_011531370.1:n.281+13165_281+13166insTATA
XM_011533070.1:c.27-33689_27-33688insTATA XP_011531372.1:n.27-33689_27-33688insTATA
XM_011533071.1:c.27-33689_27-33688insTATA XP_011531373.1:n.27-33689_27-33688insTATA
XM_011533072.1:c.27-33689_27-33688insTATA XP_011531374.1:n.27-33689_27-33688insTATA
XM_011533072.2:c.27-33689_27-33688insTATA XP_011531374.1:n.27-33689_27-33688insTATA
NM_000348.4:c.281+13165_281+13166insTATA MANE Select NP_000339.2:n.281+13165_281+13166insTATA
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