Canonical Allele Identifier: CA346598169

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1233806898
• gnomAD v2: 2-31756447-G-A
• gnomAD v4: 2-31531377-G-A
• MyVariant Identifiers: chr2:g.31756447G>A (hg19) ; chr2:g.31531377G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531377G>A , CM000664.2:g.31531377G>A	GRCh38
NC_000002.11:g.31756447G>A , CM000664.1:g.31756447G>A	GRCh37
NC_000002.10:g.31609951G>A	NCBI36
NG_008365.1:g.54595C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.541C>T MANE Select	ENSP00000477587.1:p.Pro181Ser
ENST00000622030.1:c.541C>T	ENSP00000477587.1:p.Pro181Ser
NM_000348.3:c.541C>T	NP_000339.2:p.Pro181Ser
XM_011533069.1:c.319C>T	XP_011531371.1:p.Pro107Ser
XM_011533070.1:c.286C>T	XP_011531372.1:p.Pro96Ser
XM_011533071.1:c.286C>T	XP_011531373.1:p.Pro96Ser
XM_011533072.1:c.286C>T	XP_011531374.1:p.Pro96Ser
XM_011533069.2:c.319C>T	XP_011531371.1:p.Pro107Ser
XM_011533072.2:c.286C>T	XP_011531374.1:p.Pro96Ser
NM_000348.4:c.541C>T MANE Select	NP_000339.2:p.Pro181Ser