Canonical Allele Identifier: CA346598297

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531434-G-T
• MyVariant Identifiers: chr2:g.31756504G>T (hg19) ; chr2:g.31531434G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531434G>T , CM000664.2:g.31531434G>T	GRCh38
NC_000002.11:g.31756504G>T , CM000664.1:g.31756504G>T	GRCh37
NC_000002.10:g.31610008G>T	NCBI36
NG_008365.1:g.54538C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.484C>A MANE Select	ENSP00000477587.1:p.His162Asn
ENST00000622030.1:c.484C>A	ENSP00000477587.1:p.His162Asn
NM_000348.3:c.484C>A	NP_000339.2:p.His162Asn
XM_011533069.1:c.262C>A	XP_011531371.1:p.His88Asn
XM_011533070.1:c.229C>A	XP_011531372.1:p.His77Asn
XM_011533071.1:c.229C>A	XP_011531373.1:p.His77Asn
XM_011533072.1:c.229C>A	XP_011531374.1:p.His77Asn
XM_011533069.2:c.262C>A	XP_011531371.1:p.His88Asn
XM_011533072.2:c.229C>A	XP_011531374.1:p.His77Asn
NM_000348.4:c.484C>A MANE Select	NP_000339.2:p.His162Asn