Canonical Allele Identifier: CA425566427
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v3: 2-31526127-T-G
gnomAD v4: 2-31526127-T-G
MyVariant Identifiers: chr2:g.31751197T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526127T>G , CM000664.2:g.31526127T>G GRCh38
NC_000002.11:g.31751197T>G , CM000664.1:g.31751197T>G GRCh37
NC_000002.10:g.31604701T>G NCBI36
NG_008365.1:g.59845A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.*69A>C MANE Select ENSP00000477587.1:n.*69A>C
ENST00000622030.1:c.*69A>C ENSP00000477587.1:n.*69A>C
NM_000348.3:c.*69A>C NP_000339.2:n.*69A>C
XM_011533069.1:c.*69A>C XP_011531371.1:n.*69A>C
XM_011533070.1:c.*69A>C XP_011531372.1:n.*69A>C
XM_011533071.1:c.*69A>C XP_011531373.1:n.*69A>C
XM_011533072.1:c.*69A>C XP_011531374.1:n.*69A>C
XM_011533069.2:c.*69A>C XP_011531371.1:n.*69A>C
XM_011533072.2:c.*69A>C XP_011531374.1:n.*69A>C
NM_000348.4:c.*69A>C MANE Select NP_000339.2:n.*69A>C
Search 100 bp 5'
Search 100 bp 3'