Canonical Allele Identifier: CA346598258

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531418-A-T
• MyVariant Identifiers: chr2:g.31756488A>T (hg19) ; chr2:g.31531418A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531418A>T , CM000664.2:g.31531418A>T	GRCh38
NC_000002.11:g.31756488A>T , CM000664.1:g.31756488A>T	GRCh37
NC_000002.10:g.31609992A>T	NCBI36
NG_008365.1:g.54554T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.500T>A MANE Select	ENSP00000477587.1:p.Leu167Ter
ENST00000622030.1:c.500T>A	ENSP00000477587.1:p.Leu167Ter
NM_000348.3:c.500T>A	NP_000339.2:p.Leu167Ter
XM_011533069.1:c.278T>A	XP_011531371.1:p.Leu93Ter
XM_011533070.1:c.245T>A	XP_011531372.1:p.Leu82Ter
XM_011533071.1:c.245T>A	XP_011531373.1:p.Leu82Ter
XM_011533072.1:c.245T>A	XP_011531374.1:p.Leu82Ter
XM_011533069.2:c.278T>A	XP_011531371.1:p.Leu93Ter
XM_011533072.2:c.245T>A	XP_011531374.1:p.Leu82Ter
NM_000348.4:c.500T>A MANE Select	NP_000339.2:p.Leu167Ter