Canonical Allele Identifier: CA1599851
Gene: SRD5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31526265A>G
GRCh37 chr2:g.31751335A>G
gnomAD v2:
2:31751335 A / G
gnomAD v4:
chr2-31526265-A-G
Joint Max Group AF 0.00009108 (EAS)
Exomes Max Group AF 0.0001038 (EAS)
ClinVar RCV:
RCV002471409
ClinVar Variation:
1804991
dbSNP:
764270833
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526265A>G , CM000664.2:g.31526265A>G GRCh38
NC_000002.11:g.31751335A>G , CM000664.1:g.31751335A>G GRCh37
NC_000002.10:g.31604839A>G NCBI36
NG_008365.1:g.59707T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.699-3T>C MANE Select ENSP00000477587.1:n.699-3T>C
ENST00000622030.1:c.699-3T>C ENSP00000477587.1:n.699-3T>C
NM_000348.3:c.699-3T>C NP_000339.2:n.699-3T>C
XM_011533069.1:c.477-3T>C XP_011531371.1:n.477-3T>C
XM_011533070.1:c.444-3T>C XP_011531372.1:n.444-3T>C
XM_011533071.1:c.444-3T>C XP_011531373.1:n.444-3T>C
XM_011533072.1:c.444-3T>C XP_011531374.1:n.444-3T>C
XM_011533069.2:c.477-3T>C XP_011531371.1:n.477-3T>C
XM_011533072.2:c.444-3T>C XP_011531374.1:n.444-3T>C
NM_000348.4:c.699-3T>C MANE Select NP_000339.2:n.699-3T>C
Search 100 bp 5'
Search 100 bp 3'