Canonical Allele Identifier: CA425567523

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531390-G-T
• MyVariant Identifiers: chr2:g.31756460G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531390G>T , CM000664.2:g.31531390G>T	GRCh38
NC_000002.11:g.31756460G>T , CM000664.1:g.31756460G>T	GRCh37
NC_000002.10:g.31609964G>T	NCBI36
NG_008365.1:g.54582C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.528C>A MANE Select	ENSP00000477587.1:p.Ile176=
ENST00000622030.1:c.528C>A	ENSP00000477587.1:p.Ile176=
NM_000348.3:c.528C>A	NP_000339.2:p.Ile176=
XM_011533069.1:c.306C>A	XP_011531371.1:p.Ile102=
XM_011533070.1:c.273C>A	XP_011531372.1:p.Ile91=
XM_011533071.1:c.273C>A	XP_011531373.1:p.Ile91=
XM_011533072.1:c.273C>A	XP_011531374.1:p.Ile91=
XM_011533069.2:c.306C>A	XP_011531371.1:p.Ile102=
XM_011533072.2:c.273C>A	XP_011531374.1:p.Ile91=
NM_000348.4:c.528C>A MANE Select	NP_000339.2:p.Ile176=