Canonical Allele Identifier: CA346598741
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 492900
dbSNP Id: rs1340425455
gnomAD v2: 2-31758838-T-C
gnomAD v4: 2-31533768-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533768T>C , CM000664.2:g.31533768T>C GRCh38
NC_000002.11:g.31758838T>C , CM000664.1:g.31758838T>C GRCh37
NC_000002.10:g.31612342T>C NCBI36
NG_008365.1:g.52204A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.282-2A>G MANE Select ENSP00000477587.1:n.282-2A>G
ENST00000622030.1:c.282-2A>G ENSP00000477587.1:n.282-2A>G
NM_000348.3:c.282-2A>G NP_000339.2:n.282-2A>G
XM_011533068.1:c.282-2A>G XP_011531370.1:n.282-2A>G
XM_011533069.1:c.60-2A>G XP_011531371.1:n.60-2A>G
XM_011533070.1:c.27-2A>G XP_011531372.1:n.27-2A>G
XM_011533071.1:c.27-2A>G XP_011531373.1:n.27-2A>G
XM_011533072.1:c.27-2A>G XP_011531374.1:n.27-2A>G
XM_011533069.2:c.60-2A>G XP_011531371.1:n.60-2A>G
XM_011533072.2:c.27-2A>G XP_011531374.1:n.27-2A>G
NM_000348.4:c.282-2A>G MANE Select NP_000339.2:n.282-2A>G