Canonical Allele Identifier: CA15190796
Gene: SRD5A2 HGNC NCBI
dbSNP:
4952197
gnomAD v2:
2:31767131 A / G
gnomAD v3:
2:31542061 A / G
gnomAD v4:
chr2-31542061-A-G
Joint Max Group AF 0.9234076 (AFR)
Genomes Max Group AF 0.9234076 (AFR)
MyVariant.info:
GRCh38 chr2:g.31542061A>G
GRCh37 chr2:g.31767131A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31542061A>G , CM000664.2:g.31542061A>G GRCh38
NC_000002.11:g.31767131A>G , CM000664.1:g.31767131A>G GRCh37
NC_000002.10:g.31620635A>G NCBI36
NG_008365.1:g.43911T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.282-8295T>C MANE Select ENSP00000477587.1:n.282-8295T>C
ENST00000622030.1:c.282-8295T>C ENSP00000477587.1:n.282-8295T>C
NM_000348.3:c.282-8295T>C NP_000339.2:n.282-8295T>C
XM_011533068.1:c.282-8295T>C XP_011531370.1:n.282-8295T>C
XM_011533069.1:c.60-8295T>C XP_011531371.1:n.60-8295T>C
XM_011533070.1:c.27-8295T>C XP_011531372.1:n.27-8295T>C
XM_011533071.1:c.27-8295T>C XP_011531373.1:n.27-8295T>C
XM_011533072.1:c.27-8295T>C XP_011531374.1:n.27-8295T>C
XM_011533069.2:c.60-8295T>C XP_011531371.1:n.60-8295T>C
XM_011533072.2:c.27-8295T>C XP_011531374.1:n.27-8295T>C
NM_000348.4:c.282-8295T>C MANE Select NP_000339.2:n.282-8295T>C
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