Canonical Allele Identifier: CA346598330

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1295990671
• gnomAD v2: 2-31756518-A-G
• gnomAD v4: 2-31531448-A-G
• MyVariant Identifiers: chr2:g.31756518A>G (hg19) ; chr2:g.31531448A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531448A>G , CM000664.2:g.31531448A>G	GRCh38
NC_000002.11:g.31756518A>G , CM000664.1:g.31756518A>G	GRCh37
NC_000002.10:g.31610022A>G	NCBI36
NG_008365.1:g.54524T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.470T>C MANE Select	ENSP00000477587.1:p.Met157Thr
ENST00000622030.1:c.470T>C	ENSP00000477587.1:p.Met157Thr
NM_000348.3:c.470T>C	NP_000339.2:p.Met157Thr
XM_011533069.1:c.248T>C	XP_011531371.1:p.Met83Thr
XM_011533070.1:c.215T>C	XP_011531372.1:p.Met72Thr
XM_011533071.1:c.215T>C	XP_011531373.1:p.Met72Thr
XM_011533072.1:c.215T>C	XP_011531374.1:p.Met72Thr
XM_011533069.2:c.248T>C	XP_011531371.1:p.Met83Thr
XM_011533072.2:c.215T>C	XP_011531374.1:p.Met72Thr
NM_000348.4:c.470T>C MANE Select	NP_000339.2:p.Met157Thr