Canonical Allele Identifier: CA425568184

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2716009
• ClinVar RCV Id: RCV003501394
• dbSNP Id: rs1456241407
• gnomAD v2: 2-31758676-A-G
• gnomAD v3: 2-31533606-A-G
• gnomAD v4: 2-31533606-A-G
• MyVariant Identifiers: chr2:g.31758676A>G (hg19) ; chr2:g.31533606A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533606A>G , CM000664.2:g.31533606A>G	GRCh38
NC_000002.11:g.31758676A>G , CM000664.1:g.31758676A>G	GRCh37
NC_000002.10:g.31612180A>G	NCBI36
NG_008365.1:g.52366T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.442T>C MANE Select	ENSP00000477587.1:p.Leu148=
ENST00000622030.1:c.442T>C	ENSP00000477587.1:p.Leu148=
NM_000348.3:c.442T>C	NP_000339.2:p.Leu148=
XM_011533068.1:c.442T>C	XP_011531370.1:p.Leu148=
XM_011533069.1:c.220T>C	XP_011531371.1:p.Leu74=
XM_011533070.1:c.187T>C	XP_011531372.1:p.Leu63=
XM_011533071.1:c.187T>C	XP_011531373.1:p.Leu63=
XM_011533072.1:c.187T>C	XP_011531374.1:p.Leu63=
XM_011533069.2:c.220T>C	XP_011531371.1:p.Leu74=
XM_011533072.2:c.187T>C	XP_011531374.1:p.Leu63=
NM_000348.4:c.442T>C MANE Select	NP_000339.2:p.Leu148=