Canonical Allele Identifier: CA1600017
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 492896
ClinVar RCV Id: RCV000582093
dbSNP Id: rs750444774
ExAC: 2:31805802 C / G
gnomAD v2: 2-31805802-C-G
gnomAD v3: 2-31580732-C-G
gnomAD v4: 2-31580732-C-G
MyVariant Identifiers: chr2:g.31805802C>G (hg19) chr2:g.31580732C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580732C>G , CM000664.2:g.31580732C>G GRCh38
NC_000002.11:g.31805802C>G , CM000664.1:g.31805802C>G GRCh37
NC_000002.10:g.31659306C>G NCBI36
NG_008365.1:g.5240G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.169G>C MANE Select ENSP00000477587.1:p.Glu57Gln
ENST00000622030.1:c.169G>C ENSP00000477587.1:p.Glu57Gln
NM_000348.3:c.169G>C NP_000339.2:p.Glu57Gln
XM_011533068.1:c.169G>C XP_011531370.1:p.Glu57Gln
XM_011533070.1:c.27-46966G>C XP_011531372.1:n.27-46966G>C
XM_011533071.1:c.27-46966G>C XP_011531373.1:n.27-46966G>C
XM_011533072.1:c.27-46966G>C XP_011531374.1:n.27-46966G>C
XM_011533072.2:c.27-46966G>C XP_011531374.1:n.27-46966G>C
NM_000348.4:c.169G>C MANE Select NP_000339.2:p.Glu57Gln
Search 100 bp 5'
Search 100 bp 3'