Canonical Allele Identifier: CA531720633
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1361028825
gnomAD v2: 2-31793434-C-T
gnomAD v3: 2-31568364-C-T
gnomAD v4: 2-31568364-C-T
COSMIC: COSN18850000
MyVariant Identifiers: chr2:g.31793434C>T (hg19) chr2:g.31568364C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31568364C>T , CM000664.2:g.31568364C>T GRCh38
NC_000002.11:g.31793434C>T , CM000664.1:g.31793434C>T GRCh37
NC_000002.10:g.31646938C>T NCBI36
NG_008365.1:g.17608G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.281+12256G>A MANE Select ENSP00000477587.1:n.281+12256G>A
ENST00000622030.1:c.281+12256G>A ENSP00000477587.1:n.281+12256G>A
NM_000348.3:c.281+12256G>A NP_000339.2:n.281+12256G>A
XM_011533068.1:c.281+12256G>A XP_011531370.1:n.281+12256G>A
XM_011533070.1:c.27-34598G>A XP_011531372.1:n.27-34598G>A
XM_011533071.1:c.27-34598G>A XP_011531373.1:n.27-34598G>A
XM_011533072.1:c.27-34598G>A XP_011531374.1:n.27-34598G>A
XM_011533072.2:c.27-34598G>A XP_011531374.1:n.27-34598G>A
NM_000348.4:c.281+12256G>A MANE Select NP_000339.2:n.281+12256G>A
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