Canonical Allele Identifier: CA1599849
Gene: SRD5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31526257T>A
GRCh37 chr2:g.31751327T>A
gnomAD v2:
2:31751327 T / A
gnomAD v3:
2:31526257 T / A
gnomAD v4:
chr2-31526257-T-A
Joint Max Group AF 0.00000626 (NFE)
Exomes Max Group AF 0.00000587 (NFE)
ClinVar Allele:
450852
ClinVar RCV:
RCV000529458
RCV002287421
ClinVar Variation:
459644
dbSNP:
772283403
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526257T>A , CM000664.2:g.31526257T>A GRCh38
NC_000002.11:g.31751327T>A , CM000664.1:g.31751327T>A GRCh37
NC_000002.10:g.31604831T>A NCBI36
NG_008365.1:g.59715A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.704A>T MANE Select ENSP00000477587.1:p.Tyr235Phe
ENST00000622030.1:c.704A>T ENSP00000477587.1:p.Tyr235Phe
NM_000348.3:c.704A>T NP_000339.2:p.Tyr235Phe
XM_011533069.1:c.482A>T XP_011531371.1:p.Tyr161Phe
XM_011533070.1:c.449A>T XP_011531372.1:p.Tyr150Phe
XM_011533071.1:c.449A>T XP_011531373.1:p.Tyr150Phe
XM_011533072.1:c.449A>T XP_011531374.1:p.Tyr150Phe
XM_011533069.2:c.482A>T XP_011531371.1:p.Tyr161Phe
XM_011533072.2:c.449A>T XP_011531374.1:p.Tyr150Phe
NM_000348.4:c.704A>T MANE Select NP_000339.2:p.Tyr235Phe
Search 100 bp 5'
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