Canonical Allele Identifier: CA346598166

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31756444G>T (hg19) ; chr2:g.31531374G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531374G>T , CM000664.2:g.31531374G>T	GRCh38
NC_000002.11:g.31756444G>T , CM000664.1:g.31756444G>T	GRCh37
NC_000002.10:g.31609948G>T	NCBI36
NG_008365.1:g.54598C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.544C>A MANE Select	ENSP00000477587.1:p.Gln182Lys
ENST00000622030.1:c.544C>A	ENSP00000477587.1:p.Gln182Lys
NM_000348.3:c.544C>A	NP_000339.2:p.Gln182Lys
XM_011533069.1:c.322C>A	XP_011531371.1:p.Gln108Lys
XM_011533070.1:c.289C>A	XP_011531372.1:p.Gln97Lys
XM_011533071.1:c.289C>A	XP_011531373.1:p.Gln97Lys
XM_011533072.1:c.289C>A	XP_011531374.1:p.Gln97Lys
XM_011533069.2:c.322C>A	XP_011531371.1:p.Gln108Lys
XM_011533072.2:c.289C>A	XP_011531374.1:p.Gln97Lys
NM_000348.4:c.544C>A MANE Select	NP_000339.2:p.Gln182Lys