Canonical Allele Identifier: CA224884
Gene: SRD5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31580750C>T
GRCh37 chr2:g.31805820C>T
gnomAD v2:
2:31805820 C / T
gnomAD v3:
2:31580750 C / T
gnomAD v4:
chr2-31580750-C-T
Joint Max Group AF 0.00012261 (AFR)
Genomes Max Group AF 0.00014825 (AFR)
Exomes Max Group AF 0.00003984 (AFR)
ClinVar RCV:
RCV000083641
ClinVar Variation:
97391
dbSNP:
61748123
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580750C>T , CM000664.2:g.31580750C>T GRCh38
NC_000002.11:g.31805820C>T , CM000664.1:g.31805820C>T GRCh37
NC_000002.10:g.31659324C>T NCBI36
NG_008365.1:g.5222G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.151G>A MANE Select ENSP00000477587.1:p.Ala51Thr
ENST00000622030.1:c.151G>A ENSP00000477587.1:p.Ala51Thr
NM_000348.3:c.151G>A NP_000339.2:p.Ala51Thr
XM_011533068.1:c.151G>A XP_011531370.1:p.Ala51Thr
XM_011533070.1:c.27-46984G>A XP_011531372.1:n.27-46984G>A
XM_011533071.1:c.27-46984G>A XP_011531373.1:n.27-46984G>A
XM_011533072.1:c.27-46984G>A XP_011531374.1:n.27-46984G>A
XM_011533072.2:c.27-46984G>A XP_011531374.1:n.27-46984G>A
NM_000348.4:c.151G>A MANE Select NP_000339.2:p.Ala51Thr
Search 100 bp 5'
Search 100 bp 3'