Canonical Allele Identifier: CA425567710
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31531471-A-G
MyVariant Identifiers: chr2:g.31756541A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531471A>G , CM000664.2:g.31531471A>G GRCh38
NC_000002.11:g.31756541A>G , CM000664.1:g.31756541A>G GRCh37
NC_000002.10:g.31610045A>G NCBI36
NG_008365.1:g.54501T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.447T>C MANE Select ENSP00000477587.1:p.Gly149=
ENST00000622030.1:c.447T>C ENSP00000477587.1:p.Gly149=
NM_000348.3:c.447T>C NP_000339.2:p.Gly149=
XM_011533069.1:c.225T>C XP_011531371.1:p.Gly75=
XM_011533070.1:c.192T>C XP_011531372.1:p.Gly64=
XM_011533071.1:c.192T>C XP_011531373.1:p.Gly64=
XM_011533072.1:c.192T>C XP_011531374.1:p.Gly64=
XM_011533069.2:c.225T>C XP_011531371.1:p.Gly75=
XM_011533072.2:c.192T>C XP_011531374.1:p.Gly64=
NM_000348.4:c.447T>C MANE Select NP_000339.2:p.Gly149=