Canonical Allele Identifier: CA346598193

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531388-C-A
• MyVariant Identifiers: chr2:g.31756458C>A (hg19) ; chr2:g.31531388C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531388C>A , CM000664.2:g.31531388C>A	GRCh38
NC_000002.11:g.31756458C>A , CM000664.1:g.31756458C>A	GRCh37
NC_000002.10:g.31609962C>A	NCBI36
NG_008365.1:g.54584G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.530G>T MANE Select	ENSP00000477587.1:p.Ser177Ile
ENST00000622030.1:c.530G>T	ENSP00000477587.1:p.Ser177Ile
NM_000348.3:c.530G>T	NP_000339.2:p.Ser177Ile
XM_011533069.1:c.308G>T	XP_011531371.1:p.Ser103Ile
XM_011533070.1:c.275G>T	XP_011531372.1:p.Ser92Ile
XM_011533071.1:c.275G>T	XP_011531373.1:p.Ser92Ile
XM_011533072.1:c.275G>T	XP_011531374.1:p.Ser92Ile
XM_011533069.2:c.308G>T	XP_011531371.1:p.Ser103Ile
XM_011533072.2:c.275G>T	XP_011531374.1:p.Ser92Ile
NM_000348.4:c.530G>T MANE Select	NP_000339.2:p.Ser177Ile