Canonical Allele Identifier: CA346598689

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1418439291
• gnomAD v2: 2-31758813-T-C
• gnomAD v3: 2-31533743-T-C
• gnomAD v4: 2-31533743-T-C
• COSMIC: COSN158013
• MyVariant Identifiers: chr2:g.31758813T>C (hg19) ; chr2:g.31533743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533743T>C , CM000664.2:g.31533743T>C	GRCh38
NC_000002.11:g.31758813T>C , CM000664.1:g.31758813T>C	GRCh37
NC_000002.10:g.31612317T>C	NCBI36
NG_008365.1:g.52229A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.305A>G MANE Select	ENSP00000477587.1:p.Asn102Ser
ENST00000622030.1:c.305A>G	ENSP00000477587.1:p.Asn102Ser
NM_000348.3:c.305A>G	NP_000339.2:p.Asn102Ser
XM_011533068.1:c.305A>G	XP_011531370.1:p.Asn102Ser
XM_011533069.1:c.83A>G	XP_011531371.1:p.Asn28Ser
XM_011533070.1:c.50A>G	XP_011531372.1:p.Asn17Ser
XM_011533071.1:c.50A>G	XP_011531373.1:p.Asn17Ser
XM_011533072.1:c.50A>G	XP_011531374.1:p.Asn17Ser
XM_011533069.2:c.83A>G	XP_011531371.1:p.Asn28Ser
XM_011533072.2:c.50A>G	XP_011531374.1:p.Asn17Ser
NM_000348.4:c.305A>G MANE Select	NP_000339.2:p.Asn102Ser