Canonical Allele Identifier: CA224922
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 97414
ClinVar RCV Id: RCV000083665 RCV001088179 RCV003317085
dbSNP Id: rs9332966
ExAC: 2:31751329 G / C
gnomAD v2: 2-31751329-G-C
gnomAD v3: 2-31526259-G-C
gnomAD v4: 2-31526259-G-C
MyVariant Identifiers: chr2:g.31751329G>C (hg19) chr2:g.31526259G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526259G>C , CM000664.2:g.31526259G>C GRCh38
NC_000002.11:g.31751329G>C , CM000664.1:g.31751329G>C GRCh37
NC_000002.10:g.31604833G>C NCBI36
NG_008365.1:g.59713C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.702C>G MANE Select ENSP00000477587.1:p.Phe234Leu
ENST00000622030.1:c.702C>G ENSP00000477587.1:p.Phe234Leu
NM_000348.3:c.702C>G NP_000339.2:p.Phe234Leu
XM_011533069.1:c.480C>G XP_011531371.1:p.Phe160Leu
XM_011533070.1:c.447C>G XP_011531372.1:p.Phe149Leu
XM_011533071.1:c.447C>G XP_011531373.1:p.Phe149Leu
XM_011533072.1:c.447C>G XP_011531374.1:p.Phe149Leu
XM_011533069.2:c.480C>G XP_011531371.1:p.Phe160Leu
XM_011533072.2:c.447C>G XP_011531374.1:p.Phe149Leu
NM_000348.4:c.702C>G MANE Select NP_000339.2:p.Phe234Leu
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