Canonical Allele Identifier: CA224922

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 97414
• ClinVar RCV Id: RCV000083665 ; RCV001088179 ; RCV003317085
• dbSNP Id: rs9332966
• ExAC: 2:31751329 G / C
• gnomAD v2: 2-31751329-G-C
• gnomAD v3: 2-31526259-G-C
• gnomAD v4: 2-31526259-G-C
• MyVariant Identifiers: chr2:g.31751329G>C (hg19) ; chr2:g.31526259G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526259G>C , CM000664.2:g.31526259G>C	GRCh38
NC_000002.11:g.31751329G>C , CM000664.1:g.31751329G>C	GRCh37
NC_000002.10:g.31604833G>C	NCBI36
NG_008365.1:g.59713C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.702C>G MANE Select	ENSP00000477587.1:p.Phe234Leu
ENST00000622030.1:c.702C>G	ENSP00000477587.1:p.Phe234Leu
NM_000348.3:c.702C>G	NP_000339.2:p.Phe234Leu
XM_011533069.1:c.480C>G	XP_011531371.1:p.Phe160Leu
XM_011533070.1:c.447C>G	XP_011531372.1:p.Phe149Leu
XM_011533071.1:c.447C>G	XP_011531373.1:p.Phe149Leu
XM_011533072.1:c.447C>G	XP_011531374.1:p.Phe149Leu
XM_011533069.2:c.480C>G	XP_011531371.1:p.Phe160Leu
XM_011533072.2:c.447C>G	XP_011531374.1:p.Phe149Leu
NM_000348.4:c.702C>G MANE Select	NP_000339.2:p.Phe234Leu