Canonical Allele Identifier: CA1028975446
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1349978210
gnomAD v3: 2-31580551-C-G
gnomAD v4: 2-31580551-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580551C>G , CM000664.2:g.31580551C>G GRCh38
NC_000002.11:g.31805621C>G , CM000664.1:g.31805621C>G GRCh37
NC_000002.10:g.31659125C>G NCBI36
NG_008365.1:g.5421G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+69G>C MANE Select ENSP00000477587.1:n.281+69G>C
ENST00000622030.1:c.281+69G>C ENSP00000477587.1:n.281+69G>C
NM_000348.3:c.281+69G>C NP_000339.2:n.281+69G>C
XM_011533068.1:c.281+69G>C XP_011531370.1:n.281+69G>C
XM_011533070.1:c.27-46785G>C XP_011531372.1:n.27-46785G>C
XM_011533071.1:c.27-46785G>C XP_011531373.1:n.27-46785G>C
XM_011533072.1:c.27-46785G>C XP_011531374.1:n.27-46785G>C
XM_011533072.2:c.27-46785G>C XP_011531374.1:n.27-46785G>C
NM_000348.4:c.281+69G>C MANE Select NP_000339.2:n.281+69G>C
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