Canonical Allele Identifier: CA425567412
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs2148063420
MyVariant Identifiers: chr2:g.31754403A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529333A>G , CM000664.2:g.31529333A>G GRCh38
NC_000002.11:g.31754403A>G , CM000664.1:g.31754403A>G GRCh37
NC_000002.10:g.31607907A>G NCBI36
NG_008365.1:g.56639T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.672T>C MANE Select ENSP00000477587.1:p.Leu224=
ENST00000622030.1:c.672T>C ENSP00000477587.1:p.Leu224=
NM_000348.3:c.672T>C NP_000339.2:p.Leu224=
XM_011533069.1:c.450T>C XP_011531371.1:p.Leu150=
XM_011533070.1:c.417T>C XP_011531372.1:p.Leu139=
XM_011533071.1:c.417T>C XP_011531373.1:p.Leu139=
XM_011533072.1:c.417T>C XP_011531374.1:p.Leu139=
XM_011533069.2:c.450T>C XP_011531371.1:p.Leu150=
XM_011533072.2:c.417T>C XP_011531374.1:p.Leu139=
NM_000348.4:c.672T>C MANE Select NP_000339.2:p.Leu224=