Canonical Allele Identifier: CA425568539

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533760-A-G
• COSMIC: COSN15657897
• MyVariant Identifiers: chr2:g.31758830A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533760A>G , CM000664.2:g.31533760A>G	GRCh38
NC_000002.11:g.31758830A>G , CM000664.1:g.31758830A>G	GRCh37
NC_000002.10:g.31612334A>G	NCBI36
NG_008365.1:g.52212T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.288T>C MANE Select	ENSP00000477587.1:p.Phe96=
ENST00000622030.1:c.288T>C	ENSP00000477587.1:p.Phe96=
NM_000348.3:c.288T>C	NP_000339.2:p.Phe96=
XM_011533068.1:c.288T>C	XP_011531370.1:p.Phe96=
XM_011533069.1:c.66T>C	XP_011531371.1:p.Phe22=
XM_011533070.1:c.33T>C	XP_011531372.1:p.Phe11=
XM_011533071.1:c.33T>C	XP_011531373.1:p.Phe11=
XM_011533072.1:c.33T>C	XP_011531374.1:p.Phe11=
XM_011533069.2:c.66T>C	XP_011531371.1:p.Phe22=
XM_011533072.2:c.33T>C	XP_011531374.1:p.Phe11=
NM_000348.4:c.288T>C MANE Select	NP_000339.2:p.Phe96=