Canonical Allele Identifier: CA531720583
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1412792878
gnomAD v2: 2-31793178-G-T
gnomAD v3: 2-31568108-G-T
gnomAD v4: 2-31568108-G-T
MyVariant Identifiers: chr2:g.31793178G>T (hg19) chr2:g.31568108G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31568108G>T , CM000664.2:g.31568108G>T GRCh38
NC_000002.11:g.31793178G>T , CM000664.1:g.31793178G>T GRCh37
NC_000002.10:g.31646682G>T NCBI36
NG_008365.1:g.17864C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+12512C>A MANE Select ENSP00000477587.1:n.281+12512C>A
ENST00000622030.1:c.281+12512C>A ENSP00000477587.1:n.281+12512C>A
NM_000348.3:c.281+12512C>A NP_000339.2:n.281+12512C>A
XM_011533068.1:c.281+12512C>A XP_011531370.1:n.281+12512C>A
XM_011533070.1:c.27-34342C>A XP_011531372.1:n.27-34342C>A
XM_011533071.1:c.27-34342C>A XP_011531373.1:n.27-34342C>A
XM_011533072.1:c.27-34342C>A XP_011531374.1:n.27-34342C>A
XM_011533072.2:c.27-34342C>A XP_011531374.1:n.27-34342C>A
NM_000348.4:c.281+12512C>A MANE Select NP_000339.2:n.281+12512C>A
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