Canonical Allele Identifier: CA2658498768
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31531507-T-TA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531510dup , CM000664.2:g.31531510dup GRCh38
NC_000002.11:g.31756580dup , CM000664.1:g.31756580dup GRCh37
NC_000002.10:g.31610084dup NCBI36
NG_008365.1:g.54464dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.446-36dup MANE Select ENSP00000477587.1:n.446-36dup
ENST00000622030.1:c.446-36dup ENSP00000477587.1:n.446-36dup
NM_000348.3:c.446-36dup NP_000339.2:n.446-36dup
XM_011533069.1:c.224-36dup XP_011531371.1:n.224-36dup
XM_011533070.1:c.191-36dup XP_011531372.1:n.191-36dup
XM_011533071.1:c.191-36dup XP_011531373.1:n.191-36dup
XM_011533072.1:c.191-36dup XP_011531374.1:n.191-36dup
XM_011533069.2:c.224-36dup XP_011531371.1:n.224-36dup
XM_011533072.2:c.191-36dup XP_011531374.1:n.191-36dup
NM_000348.4:c.446-36dup MANE Select NP_000339.2:n.446-36dup
Search 100 bp 5'
Search 100 bp 3'