Canonical Allele Identifier: CA1599847
Gene: SRD5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31526227G>T
GRCh37 chr2:g.31751297G>T
gnomAD v2:
2:31751297 G / T
gnomAD v3:
2:31526227 G / T
gnomAD v4:
chr2-31526227-G-T
Joint Max Group AF 0.00174876 (AFR)
Genomes Max Group AF 0.0016058 (AFR)
Exomes Max Group AF 0.00169348 (AFR)
ClinVar Allele:
428053
ClinVar RCV:
RCV000499604
RCV000873320
RCV001446958
ClinVar Variation:
436858
dbSNP:
145712014
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526227G>T , CM000664.2:g.31526227G>T GRCh38
NC_000002.11:g.31751297G>T , CM000664.1:g.31751297G>T GRCh37
NC_000002.10:g.31604801G>T NCBI36
NG_008365.1:g.59745C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.734C>A MANE Select ENSP00000477587.1:p.Ser245Tyr
ENST00000622030.1:c.734C>A ENSP00000477587.1:p.Ser245Tyr
NM_000348.3:c.734C>A NP_000339.2:p.Ser245Tyr
XM_011533069.1:c.512C>A XP_011531371.1:p.Ser171Tyr
XM_011533070.1:c.479C>A XP_011531372.1:p.Ser160Tyr
XM_011533071.1:c.479C>A XP_011531373.1:p.Ser160Tyr
XM_011533072.1:c.479C>A XP_011531374.1:p.Ser160Tyr
XM_011533069.2:c.512C>A XP_011531371.1:p.Ser171Tyr
XM_011533072.2:c.479C>A XP_011531374.1:p.Ser160Tyr
NM_000348.4:c.734C>A MANE Select NP_000339.2:p.Ser245Tyr
Search 100 bp 5'
Search 100 bp 3'