Canonical Allele Identifier: CA425567407
Gene: SRD5A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.31754399G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529329G>A , CM000664.2:g.31529329G>A GRCh38
NC_000002.11:g.31754399G>A , CM000664.1:g.31754399G>A GRCh37
NC_000002.10:g.31607903G>A NCBI36
NG_008365.1:g.56643C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.676C>T MANE Select ENSP00000477587.1:p.Leu226=
ENST00000622030.1:c.676C>T ENSP00000477587.1:p.Leu226=
NM_000348.3:c.676C>T NP_000339.2:p.Leu226=
XM_011533069.1:c.454C>T XP_011531371.1:p.Leu152=
XM_011533070.1:c.421C>T XP_011531372.1:p.Leu141=
XM_011533071.1:c.421C>T XP_011531373.1:p.Leu141=
XM_011533072.1:c.421C>T XP_011531374.1:p.Leu141=
XM_011533069.2:c.454C>T XP_011531371.1:p.Leu152=
XM_011533072.2:c.421C>T XP_011531374.1:p.Leu141=
NM_000348.4:c.676C>T MANE Select NP_000339.2:p.Leu226=