Canonical Allele Identifier: CA425567509

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2902259
• ClinVar RCV Id: RCV003607023
• dbSNP Id: rs1165282112
• gnomAD v4: 2-31531383-T-G
• MyVariant Identifiers: chr2:g.31756453T>G (hg19) ; chr2:g.31531383T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531383T>G , CM000664.2:g.31531383T>G	GRCh38
NC_000002.11:g.31756453T>G , CM000664.1:g.31756453T>G	GRCh37
NC_000002.10:g.31609957T>G	NCBI36
NG_008365.1:g.54589A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.535A>C MANE Select	ENSP00000477587.1:p.Arg179=
ENST00000622030.1:c.535A>C	ENSP00000477587.1:p.Arg179=
NM_000348.3:c.535A>C	NP_000339.2:p.Arg179=
XM_011533069.1:c.313A>C	XP_011531371.1:p.Arg105=
XM_011533070.1:c.280A>C	XP_011531372.1:p.Arg94=
XM_011533071.1:c.280A>C	XP_011531373.1:p.Arg94=
XM_011533072.1:c.280A>C	XP_011531374.1:p.Arg94=
XM_011533069.2:c.313A>C	XP_011531371.1:p.Arg105=
XM_011533072.2:c.280A>C	XP_011531374.1:p.Arg94=
NM_000348.4:c.535A>C MANE Select	NP_000339.2:p.Arg179=