Canonical Allele Identifier: CA340081
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3346
dbSNP Id: rs121434251
gnomAD v2: 2-31754383-T-C
gnomAD v3: 2-31529313-T-C
gnomAD v4: 2-31529313-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529313T>C , CM000664.2:g.31529313T>C GRCh38
NC_000002.11:g.31754383T>C , CM000664.1:g.31754383T>C GRCh37
NC_000002.10:g.31607887T>C NCBI36
NG_008365.1:g.56659A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.692A>G MANE Select ENSP00000477587.1:p.His231Arg
ENST00000622030.1:c.692A>G ENSP00000477587.1:p.His231Arg
NM_000348.3:c.692A>G NP_000339.2:p.His231Arg
XM_011533069.1:c.470A>G XP_011531371.1:p.His157Arg
XM_011533070.1:c.437A>G XP_011531372.1:p.His146Arg
XM_011533071.1:c.437A>G XP_011531373.1:p.His146Arg
XM_011533072.1:c.437A>G XP_011531374.1:p.His146Arg
XM_011533069.2:c.470A>G XP_011531371.1:p.His157Arg
XM_011533072.2:c.437A>G XP_011531374.1:p.His146Arg
NM_000348.4:c.692A>G MANE Select NP_000339.2:p.His231Arg