Canonical Allele Identifier: CA425567485
Gene: SRD5A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.31754508A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529438A>C , CM000664.2:g.31529438A>C GRCh38
NC_000002.11:g.31754508A>C , CM000664.1:g.31754508A>C GRCh37
NC_000002.10:g.31608012A>C NCBI36
NG_008365.1:g.56534T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.567T>G MANE Select ENSP00000477587.1:p.Val189=
ENST00000622030.1:c.567T>G ENSP00000477587.1:p.Val189=
NM_000348.3:c.567T>G NP_000339.2:p.Val189=
XM_011533069.1:c.345T>G XP_011531371.1:p.Val115=
XM_011533070.1:c.312T>G XP_011531372.1:p.Val104=
XM_011533071.1:c.312T>G XP_011531373.1:p.Val104=
XM_011533072.1:c.312T>G XP_011531374.1:p.Val104=
XM_011533069.2:c.345T>G XP_011531371.1:p.Val115=
XM_011533072.2:c.312T>G XP_011531374.1:p.Val104=
NM_000348.4:c.567T>G MANE Select NP_000339.2:p.Val189=