Canonical Allele Identifier: CA425566438
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs1327616112
gnomAD v4: 2-31526131-G-C
MyVariant Identifiers: chr2:g.31751201G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526131G>C , CM000664.2:g.31526131G>C GRCh38
NC_000002.11:g.31751201G>C , CM000664.1:g.31751201G>C GRCh37
NC_000002.10:g.31604705G>C NCBI36
NG_008365.1:g.59841C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.*65C>G MANE Select ENSP00000477587.1:n.*65C>G
ENST00000622030.1:c.*65C>G ENSP00000477587.1:n.*65C>G
NM_000348.3:c.*65C>G NP_000339.2:n.*65C>G
XM_011533069.1:c.*65C>G XP_011531371.1:n.*65C>G
XM_011533070.1:c.*65C>G XP_011531372.1:n.*65C>G
XM_011533071.1:c.*65C>G XP_011531373.1:n.*65C>G
XM_011533072.1:c.*65C>G XP_011531374.1:n.*65C>G
XM_011533069.2:c.*65C>G XP_011531371.1:n.*65C>G
XM_011533072.2:c.*65C>G XP_011531374.1:n.*65C>G
NM_000348.4:c.*65C>G MANE Select NP_000339.2:n.*65C>G