Canonical Allele Identifier: CA1599849

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 459644
• ClinVar RCV Id: RCV000529458 ; RCV002287421
• dbSNP Id: rs772283403
• ExAC: 2:31751327 T / A
• gnomAD v2: 2-31751327-T-A
• gnomAD v3: 2-31526257-T-A
• gnomAD v4: 2-31526257-T-A
• MyVariant Identifiers: chr2:g.31751327T>A (hg19) ; chr2:g.31526257T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526257T>A , CM000664.2:g.31526257T>A	GRCh38
NC_000002.11:g.31751327T>A , CM000664.1:g.31751327T>A	GRCh37
NC_000002.10:g.31604831T>A	NCBI36
NG_008365.1:g.59715A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.704A>T MANE Select	ENSP00000477587.1:p.Tyr235Phe
ENST00000622030.1:c.704A>T	ENSP00000477587.1:p.Tyr235Phe
NM_000348.3:c.704A>T	NP_000339.2:p.Tyr235Phe
XM_011533069.1:c.482A>T	XP_011531371.1:p.Tyr161Phe
XM_011533070.1:c.449A>T	XP_011531372.1:p.Tyr150Phe
XM_011533071.1:c.449A>T	XP_011531373.1:p.Tyr150Phe
XM_011533072.1:c.449A>T	XP_011531374.1:p.Tyr150Phe
XM_011533069.2:c.482A>T	XP_011531371.1:p.Tyr161Phe
XM_011533072.2:c.449A>T	XP_011531374.1:p.Tyr150Phe
NM_000348.4:c.704A>T MANE Select	NP_000339.2:p.Tyr235Phe