Canonical Allele Identifier: CA425567566

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531408-G-T
• MyVariant Identifiers: chr2:g.31756478G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531408G>T , CM000664.2:g.31531408G>T	GRCh38
NC_000002.11:g.31756478G>T , CM000664.1:g.31756478G>T	GRCh37
NC_000002.10:g.31609982G>T	NCBI36
NG_008365.1:g.54564C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.510C>A MANE Select	ENSP00000477587.1:p.Leu170=
ENST00000622030.1:c.510C>A	ENSP00000477587.1:p.Leu170=
NM_000348.3:c.510C>A	NP_000339.2:p.Leu170=
XM_011533069.1:c.288C>A	XP_011531371.1:p.Leu96=
XM_011533070.1:c.255C>A	XP_011531372.1:p.Leu85=
XM_011533071.1:c.255C>A	XP_011531373.1:p.Leu85=
XM_011533072.1:c.255C>A	XP_011531374.1:p.Leu85=
XM_011533069.2:c.288C>A	XP_011531371.1:p.Leu96=
XM_011533072.2:c.255C>A	XP_011531374.1:p.Leu85=
NM_000348.4:c.510C>A MANE Select	NP_000339.2:p.Leu170=