Canonical Allele Identifier: CA346598713

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533755-T-C
• MyVariant Identifiers: chr2:g.31758825T>C (hg19) ; chr2:g.31533755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533755T>C , CM000664.2:g.31533755T>C	GRCh38
NC_000002.11:g.31758825T>C , CM000664.1:g.31758825T>C	GRCh37
NC_000002.10:g.31612329T>C	NCBI36
NG_008365.1:g.52217A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.293A>G MANE Select	ENSP00000477587.1:p.Tyr98Cys
ENST00000622030.1:c.293A>G	ENSP00000477587.1:p.Tyr98Cys
NM_000348.3:c.293A>G	NP_000339.2:p.Tyr98Cys
XM_011533068.1:c.293A>G	XP_011531370.1:p.Tyr98Cys
XM_011533069.1:c.71A>G	XP_011531371.1:p.Tyr24Cys
XM_011533070.1:c.38A>G	XP_011531372.1:p.Tyr13Cys
XM_011533071.1:c.38A>G	XP_011531373.1:p.Tyr13Cys
XM_011533072.1:c.38A>G	XP_011531374.1:p.Tyr13Cys
XM_011533069.2:c.71A>G	XP_011531371.1:p.Tyr24Cys
XM_011533072.2:c.38A>G	XP_011531374.1:p.Tyr13Cys
NM_000348.4:c.293A>G MANE Select	NP_000339.2:p.Tyr98Cys