Canonical Allele Identifier: CA346598174

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531379-A-G
• MyVariant Identifiers: chr2:g.31756449A>G (hg19) ; chr2:g.31531379A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531379A>G , CM000664.2:g.31531379A>G	GRCh38
NC_000002.11:g.31756449A>G , CM000664.1:g.31756449A>G	GRCh37
NC_000002.10:g.31609953A>G	NCBI36
NG_008365.1:g.54593T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.539T>C MANE Select	ENSP00000477587.1:p.Ile180Thr
ENST00000622030.1:c.539T>C	ENSP00000477587.1:p.Ile180Thr
NM_000348.3:c.539T>C	NP_000339.2:p.Ile180Thr
XM_011533069.1:c.317T>C	XP_011531371.1:p.Ile106Thr
XM_011533070.1:c.284T>C	XP_011531372.1:p.Ile95Thr
XM_011533071.1:c.284T>C	XP_011531373.1:p.Ile95Thr
XM_011533072.1:c.284T>C	XP_011531374.1:p.Ile95Thr
XM_011533069.2:c.317T>C	XP_011531371.1:p.Ile106Thr
XM_011533072.2:c.284T>C	XP_011531374.1:p.Ile95Thr
NM_000348.4:c.539T>C MANE Select	NP_000339.2:p.Ile180Thr