Canonical Allele Identifier: CA425566552
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31526172-C-G
MyVariant Identifiers: chr2:g.31751242C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31526172C>G , CM000664.2:g.31526172C>G GRCh38
NC_000002.11:g.31751242C>G , CM000664.1:g.31751242C>G GRCh37
NC_000002.10:g.31604746C>G NCBI36
NG_008365.1:g.59800G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.*24G>C MANE Select ENSP00000477587.1:n.*24G>C
ENST00000622030.1:c.*24G>C ENSP00000477587.1:n.*24G>C
NM_000348.3:c.*24G>C NP_000339.2:n.*24G>C
XM_011533069.1:c.*24G>C XP_011531371.1:n.*24G>C
XM_011533070.1:c.*24G>C XP_011531372.1:n.*24G>C
XM_011533071.1:c.*24G>C XP_011531373.1:n.*24G>C
XM_011533072.1:c.*24G>C XP_011531374.1:n.*24G>C
XM_011533069.2:c.*24G>C XP_011531371.1:n.*24G>C
XM_011533072.2:c.*24G>C XP_011531374.1:n.*24G>C
NM_000348.4:c.*24G>C MANE Select NP_000339.2:n.*24G>C