Canonical Allele Identifier: CA346598185

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531385-T-C
• MyVariant Identifiers: chr2:g.31756455T>C (hg19) ; chr2:g.31531385T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531385T>C , CM000664.2:g.31531385T>C	GRCh38
NC_000002.11:g.31756455T>C , CM000664.1:g.31756455T>C	GRCh37
NC_000002.10:g.31609959T>C	NCBI36
NG_008365.1:g.54587A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.533A>G MANE Select	ENSP00000477587.1:p.Tyr178Cys
ENST00000622030.1:c.533A>G	ENSP00000477587.1:p.Tyr178Cys
NM_000348.3:c.533A>G	NP_000339.2:p.Tyr178Cys
XM_011533069.1:c.311A>G	XP_011531371.1:p.Tyr104Cys
XM_011533070.1:c.278A>G	XP_011531372.1:p.Tyr93Cys
XM_011533071.1:c.278A>G	XP_011531373.1:p.Tyr93Cys
XM_011533072.1:c.278A>G	XP_011531374.1:p.Tyr93Cys
XM_011533069.2:c.311A>G	XP_011531371.1:p.Tyr104Cys
XM_011533072.2:c.278A>G	XP_011531374.1:p.Tyr93Cys
NM_000348.4:c.533A>G MANE Select	NP_000339.2:p.Tyr178Cys