Canonical Allele Identifier: CA2658512629
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580545_31580558dup , CM000664.2:g.31580545_31580558dup GRCh38

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+67_281+80dup MANE Select ENSP00000477587.1:n.281+67_281+80dup
ENST00000622030.1:c.281+67_281+80dup ENSP00000477587.1:n.281+67_281+80dup
NM_000348.3:c.281+67_281+80dup NP_000339.2:n.281+67_281+80dup
XM_011533068.1:c.281+67_281+80dup XP_011531370.1:n.281+67_281+80dup
XM_011533070.1:c.27-46787_27-46774dup XP_011531372.1:n.27-46787_27-46774dup
XM_011533071.1:c.27-46787_27-46774dup XP_011531373.1:n.27-46787_27-46774dup
XM_011533072.1:c.27-46787_27-46774dup XP_011531374.1:n.27-46787_27-46774dup
XM_011533072.2:c.27-46787_27-46774dup XP_011531374.1:n.27-46787_27-46774dup
NM_000348.4:c.281+67_281+80dup MANE Select NP_000339.2:n.281+67_281+80dup