Canonical Allele Identifier: CA425567550

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1193580103
• gnomAD v2: 2-31756469-A-T
• MyVariant Identifiers: chr2:g.31756469A>T (hg19) ; chr2:g.31531399A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531399A>T , CM000664.2:g.31531399A>T	GRCh38
NC_000002.11:g.31756469A>T , CM000664.1:g.31756469A>T	GRCh37
NC_000002.10:g.31609973A>T	NCBI36
NG_008365.1:g.54573T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.519T>A MANE Select	ENSP00000477587.1:p.Pro173=
ENST00000622030.1:c.519T>A	ENSP00000477587.1:p.Pro173=
NM_000348.3:c.519T>A	NP_000339.2:p.Pro173=
XM_011533069.1:c.297T>A	XP_011531371.1:p.Pro99=
XM_011533070.1:c.264T>A	XP_011531372.1:p.Pro88=
XM_011533071.1:c.264T>A	XP_011531373.1:p.Pro88=
XM_011533072.1:c.264T>A	XP_011531374.1:p.Pro88=
XM_011533069.2:c.297T>A	XP_011531371.1:p.Pro99=
XM_011533072.2:c.264T>A	XP_011531374.1:p.Pro88=
NM_000348.4:c.519T>A MANE Select	NP_000339.2:p.Pro173=