Canonical Allele Identifier: CA2658498744
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31531476-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531476G>C , CM000664.2:g.31531476G>C GRCh38
NC_000002.11:g.31756546G>C , CM000664.1:g.31756546G>C GRCh37
NC_000002.10:g.31610050G>C NCBI36
NG_008365.1:g.54496C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.446-4C>G MANE Select ENSP00000477587.1:n.446-4C>G
ENST00000622030.1:c.446-4C>G ENSP00000477587.1:n.446-4C>G
NM_000348.3:c.446-4C>G NP_000339.2:n.446-4C>G
XM_011533069.1:c.224-4C>G XP_011531371.1:n.224-4C>G
XM_011533070.1:c.191-4C>G XP_011531372.1:n.191-4C>G
XM_011533071.1:c.191-4C>G XP_011531373.1:n.191-4C>G
XM_011533072.1:c.191-4C>G XP_011531374.1:n.191-4C>G
XM_011533069.2:c.224-4C>G XP_011531371.1:n.224-4C>G
XM_011533072.2:c.191-4C>G XP_011531374.1:n.191-4C>G
NM_000348.4:c.446-4C>G MANE Select NP_000339.2:n.446-4C>G