Canonical Allele Identifier: CA340081

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 3346
• ClinVar RCV Id: RCV000003510 ; RCV001552751
• dbSNP Id: rs121434251
• ExAC: 2:31754383 T / C
• gnomAD v2: 2-31754383-T-C
• gnomAD v3: 2-31529313-T-C
• gnomAD v4: 2-31529313-T-C
• MyVariant Identifiers: chr2:g.31754383T>C (hg19) ; chr2:g.31529313T>C (hg38)
• PubMed: PMID:9745434

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529313T>C , CM000664.2:g.31529313T>C	GRCh38
NC_000002.11:g.31754383T>C , CM000664.1:g.31754383T>C	GRCh37
NC_000002.10:g.31607887T>C	NCBI36
NG_008365.1:g.56659A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.692A>G MANE Select	ENSP00000477587.1:p.His231Arg
ENST00000622030.1:c.692A>G	ENSP00000477587.1:p.His231Arg
NM_000348.3:c.692A>G	NP_000339.2:p.His231Arg
XM_011533069.1:c.470A>G	XP_011531371.1:p.His157Arg
XM_011533070.1:c.437A>G	XP_011531372.1:p.His146Arg
XM_011533071.1:c.437A>G	XP_011531373.1:p.His146Arg
XM_011533072.1:c.437A>G	XP_011531374.1:p.His146Arg
XM_011533069.2:c.470A>G	XP_011531371.1:p.His157Arg
XM_011533072.2:c.437A>G	XP_011531374.1:p.His146Arg
NM_000348.4:c.692A>G MANE Select	NP_000339.2:p.His231Arg