Canonical Allele Identifier: CA346598211

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531395-C-A
• COSMIC: COSN506202
• MyVariant Identifiers: chr2:g.31756465C>A (hg19) ; chr2:g.31531395C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531395C>A , CM000664.2:g.31531395C>A	GRCh38
NC_000002.11:g.31756465C>A , CM000664.1:g.31756465C>A	GRCh37
NC_000002.10:g.31609969C>A	NCBI36
NG_008365.1:g.54577G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.523G>T MANE Select	ENSP00000477587.1:p.Glu175Ter
ENST00000622030.1:c.523G>T	ENSP00000477587.1:p.Glu175Ter
NM_000348.3:c.523G>T	NP_000339.2:p.Glu175Ter
XM_011533069.1:c.301G>T	XP_011531371.1:p.Glu101Ter
XM_011533070.1:c.268G>T	XP_011531372.1:p.Glu90Ter
XM_011533071.1:c.268G>T	XP_011531373.1:p.Glu90Ter
XM_011533072.1:c.268G>T	XP_011531374.1:p.Glu90Ter
XM_011533069.2:c.301G>T	XP_011531371.1:p.Glu101Ter
XM_011533072.2:c.268G>T	XP_011531374.1:p.Glu90Ter
NM_000348.4:c.523G>T MANE Select	NP_000339.2:p.Glu175Ter