Canonical Allele Identifier: CA346597895

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 3045745
• ClinVar RCV Id: RCV003951460
• MyVariant Identifiers: chr2:g.31754406G>C (hg19) ; chr2:g.31529336G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529336G>C , CM000664.2:g.31529336G>C	GRCh38
NC_000002.11:g.31754406G>C , CM000664.1:g.31754406G>C	GRCh37
NC_000002.10:g.31607910G>C	NCBI36
NG_008365.1:g.56636C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.669C>G MANE Select	ENSP00000477587.1:p.Phe223Leu
ENST00000622030.1:c.669C>G	ENSP00000477587.1:p.Phe223Leu
NM_000348.3:c.669C>G	NP_000339.2:p.Phe223Leu
XM_011533069.1:c.447C>G	XP_011531371.1:p.Phe149Leu
XM_011533070.1:c.414C>G	XP_011531372.1:p.Phe138Leu
XM_011533071.1:c.414C>G	XP_011531373.1:p.Phe138Leu
XM_011533072.1:c.414C>G	XP_011531374.1:p.Phe138Leu
XM_011533069.2:c.447C>G	XP_011531371.1:p.Phe149Leu
XM_011533072.2:c.414C>G	XP_011531374.1:p.Phe138Leu
NM_000348.4:c.669C>G MANE Select	NP_000339.2:p.Phe223Leu