Canonical Allele Identifier: CA346598254

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531416-G-T
• MyVariant Identifiers: chr2:g.31756486G>T (hg19) ; chr2:g.31531416G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531416G>T , CM000664.2:g.31531416G>T	GRCh38
NC_000002.11:g.31756486G>T , CM000664.1:g.31756486G>T	GRCh37
NC_000002.10:g.31609990G>T	NCBI36
NG_008365.1:g.54556C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.502C>A MANE Select	ENSP00000477587.1:p.Arg168Ser
ENST00000622030.1:c.502C>A	ENSP00000477587.1:p.Arg168Ser
NM_000348.3:c.502C>A	NP_000339.2:p.Arg168Ser
XM_011533069.1:c.280C>A	XP_011531371.1:p.Arg94Ser
XM_011533070.1:c.247C>A	XP_011531372.1:p.Arg83Ser
XM_011533071.1:c.247C>A	XP_011531373.1:p.Arg83Ser
XM_011533072.1:c.247C>A	XP_011531374.1:p.Arg83Ser
XM_011533069.2:c.280C>A	XP_011531371.1:p.Arg94Ser
XM_011533072.2:c.247C>A	XP_011531374.1:p.Arg83Ser
NM_000348.4:c.502C>A MANE Select	NP_000339.2:p.Arg168Ser