Canonical Allele Identifier: CA425559907
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs76266838
gnomAD v3: 2-31523874-A-G
gnomAD v4: 2-31523874-A-G
MyVariant Identifiers: chr2:g.31748944A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31523874A>G , CM000664.2:g.31523874A>G GRCh38
NC_000002.11:g.31748944A>G , CM000664.1:g.31748944A>G GRCh37
NC_000002.10:g.31602448A>G NCBI36
NG_008365.1:g.62098T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.*2322T>C MANE Select ENSP00000477587.1:n.*2322T>C
ENST00000622030.1:c.*2322T>C ENSP00000477587.1:n.*2322T>C
XM_011533069.1:c.*2322T>C XP_011531371.1:n.*2322T>C
XM_011533070.1:c.*2322T>C XP_011531372.1:n.*2322T>C
XM_011533071.1:c.*2322T>C XP_011531373.1:n.*2322T>C
XM_011533072.1:c.*2322T>C XP_011531374.1:n.*2322T>C
XM_011533069.2:c.*2322T>C XP_011531371.1:n.*2322T>C
XM_011533072.2:c.*2322T>C XP_011531374.1:n.*2322T>C
NM_000348.4:c.*2322T>C MANE Select NP_000339.2:n.*2322T>C