Canonical Allele Identifier: CA1599888

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 459638
• ClinVar RCV Id: RCV000534325 ; RCV001269600
• dbSNP Id: rs763296857
• ExAC: 2:31754497 T / C
• gnomAD v2: 2-31754497-T-C
• gnomAD v3: 2-31529427-T-C
• gnomAD v4: 2-31529427-T-C
• MyVariant Identifiers: chr2:g.31754497T>C (hg19) ; chr2:g.31529427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529427T>C , CM000664.2:g.31529427T>C	GRCh38
NC_000002.11:g.31754497T>C , CM000664.1:g.31754497T>C	GRCh37
NC_000002.10:g.31608001T>C	NCBI36
NG_008365.1:g.56545A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.578A>G MANE Select	ENSP00000477587.1:p.Asn193Ser
ENST00000622030.1:c.578A>G	ENSP00000477587.1:p.Asn193Ser
NM_000348.3:c.578A>G	NP_000339.2:p.Asn193Ser
XM_011533069.1:c.356A>G	XP_011531371.1:p.Asn119Ser
XM_011533070.1:c.323A>G	XP_011531372.1:p.Asn108Ser
XM_011533071.1:c.323A>G	XP_011531373.1:p.Asn108Ser
XM_011533072.1:c.323A>G	XP_011531374.1:p.Asn108Ser
XM_011533069.2:c.356A>G	XP_011531371.1:p.Asn119Ser
XM_011533072.2:c.323A>G	XP_011531374.1:p.Asn108Ser
NM_000348.4:c.578A>G MANE Select	NP_000339.2:p.Asn193Ser