Canonical Allele Identifier: CA346598223

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531401-G-C
• MyVariant Identifiers: chr2:g.31756471G>C (hg19) ; chr2:g.31531401G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531401G>C , CM000664.2:g.31531401G>C	GRCh38
NC_000002.11:g.31756471G>C , CM000664.1:g.31756471G>C	GRCh37
NC_000002.10:g.31609975G>C	NCBI36
NG_008365.1:g.54571C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.517C>G MANE Select	ENSP00000477587.1:p.Pro173Ala
ENST00000622030.1:c.517C>G	ENSP00000477587.1:p.Pro173Ala
NM_000348.3:c.517C>G	NP_000339.2:p.Pro173Ala
XM_011533069.1:c.295C>G	XP_011531371.1:p.Pro99Ala
XM_011533070.1:c.262C>G	XP_011531372.1:p.Pro88Ala
XM_011533071.1:c.262C>G	XP_011531373.1:p.Pro88Ala
XM_011533072.1:c.262C>G	XP_011531374.1:p.Pro88Ala
XM_011533069.2:c.295C>G	XP_011531371.1:p.Pro99Ala
XM_011533072.2:c.262C>G	XP_011531374.1:p.Pro88Ala
NM_000348.4:c.517C>G MANE Select	NP_000339.2:p.Pro173Ala