Canonical Allele Identifier: CA1599917
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1958711
ClinVar RCV Id: RCV002725597
dbSNP Id: rs756405261
ExAC: 2:31756475 C / G
gnomAD v2: 2-31756475-C-G
gnomAD v3: 2-31531405-C-G
gnomAD v4: 2-31531405-C-G
MyVariant Identifiers: chr2:g.31756475C>G (hg19) chr2:g.31531405C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531405C>G , CM000664.2:g.31531405C>G GRCh38
NC_000002.11:g.31756475C>G , CM000664.1:g.31756475C>G GRCh37
NC_000002.10:g.31609979C>G NCBI36
NG_008365.1:g.54567G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.513G>C MANE Select ENSP00000477587.1:p.Arg171Ser
ENST00000622030.1:c.513G>C ENSP00000477587.1:p.Arg171Ser
NM_000348.3:c.513G>C NP_000339.2:p.Arg171Ser
XM_011533069.1:c.291G>C XP_011531371.1:p.Arg97Ser
XM_011533070.1:c.258G>C XP_011531372.1:p.Arg86Ser
XM_011533071.1:c.258G>C XP_011531373.1:p.Arg86Ser
XM_011533072.1:c.258G>C XP_011531374.1:p.Arg86Ser
XM_011533069.2:c.291G>C XP_011531371.1:p.Arg97Ser
XM_011533072.2:c.258G>C XP_011531374.1:p.Arg86Ser
NM_000348.4:c.513G>C MANE Select NP_000339.2:p.Arg171Ser
Search 100 bp 5'
Search 100 bp 3'