Canonical Allele Identifier: CA224901
Gene: SRD5A2 HGNC NCBI
ClinVar RCV:
RCV000083650
RCV000250955
RCV001516898
ClinVar Variation:
97400
COSMIC:
COSN17131728
dbSNP:
523349
gnomAD v2:
2:31805706 G / C
gnomAD v3:
2:31580636 G / C
gnomAD v4:
chr2-31580636-G-C
Joint Max Group AF 0.74242646 (AFR)
Genomes Max Group AF 0.73846482 (AFR)
Exomes Max Group AF 0.74258969 (AFR)
MyVariant.info:
GRCh38 chr2:g.31580636G>C
GRCh37 chr2:g.31805706G>C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580636G>C , CM000664.2:g.31580636G>C GRCh38
NC_000002.11:g.31805706G>C , CM000664.1:g.31805706G>C GRCh37
NC_000002.10:g.31659210G>C NCBI36
NG_008365.1:g.5336C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.265C>G MANE Select ENSP00000477587.1:p.Leu89Val
ENST00000622030.1:c.265C>G ENSP00000477587.1:p.Leu89Val
NM_000348.3:c.265C>G NP_000339.2:p.Leu89Val
XM_011533068.1:c.265C>G XP_011531370.1:p.Leu89Val
XM_011533070.1:c.27-46870C>G XP_011531372.1:n.27-46870C>G
XM_011533071.1:c.27-46870C>G XP_011531373.1:n.27-46870C>G
XM_011533072.1:c.27-46870C>G XP_011531374.1:n.27-46870C>G
XM_011533072.2:c.27-46870C>G XP_011531374.1:n.27-46870C>G
NM_000348.4:c.265C>G MANE Select NP_000339.2:p.Leu89Val
Search 100 bp 5'
Search 100 bp 3'