Canonical Allele Identifier: CA346598265

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1665904456
• gnomAD v4: 2-31531422-T-C
• MyVariant Identifiers: chr2:g.31756492T>C (hg19) ; chr2:g.31531422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531422T>C , CM000664.2:g.31531422T>C	GRCh38
NC_000002.11:g.31756492T>C , CM000664.1:g.31756492T>C	GRCh37
NC_000002.10:g.31609996T>C	NCBI36
NG_008365.1:g.54550A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.496A>G MANE Select	ENSP00000477587.1:p.Ile166Val
ENST00000622030.1:c.496A>G	ENSP00000477587.1:p.Ile166Val
NM_000348.3:c.496A>G	NP_000339.2:p.Ile166Val
XM_011533069.1:c.274A>G	XP_011531371.1:p.Ile92Val
XM_011533070.1:c.241A>G	XP_011531372.1:p.Ile81Val
XM_011533071.1:c.241A>G	XP_011531373.1:p.Ile81Val
XM_011533072.1:c.241A>G	XP_011531374.1:p.Ile81Val
XM_011533069.2:c.274A>G	XP_011531371.1:p.Ile92Val
XM_011533072.2:c.241A>G	XP_011531374.1:p.Ile81Val
NM_000348.4:c.496A>G MANE Select	NP_000339.2:p.Ile166Val