Canonical Allele Identifier: CA425567491
Gene: SRD5A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.31754520C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529450C>T , CM000664.2:g.31529450C>T GRCh38
NC_000002.11:g.31754520C>T , CM000664.1:g.31754520C>T GRCh37
NC_000002.10:g.31608024C>T NCBI36
NG_008365.1:g.56522G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.555G>A MANE Select ENSP00000477587.1:p.Leu185=
ENST00000622030.1:c.555G>A ENSP00000477587.1:p.Leu185=
NM_000348.3:c.555G>A NP_000339.2:p.Leu185=
XM_011533069.1:c.333G>A XP_011531371.1:p.Leu111=
XM_011533070.1:c.300G>A XP_011531372.1:p.Leu100=
XM_011533071.1:c.300G>A XP_011531373.1:p.Leu100=
XM_011533072.1:c.300G>A XP_011531374.1:p.Leu100=
XM_011533069.2:c.333G>A XP_011531371.1:p.Leu111=
XM_011533072.2:c.300G>A XP_011531374.1:p.Leu100=
NM_000348.4:c.555G>A MANE Select NP_000339.2:p.Leu185=