Canonical Allele Identifier: CA45135976

Gene: SRD5A2

Linked Data

• dbSNP Id: rs983836769
• gnomAD v4: 2-31526240-C-A
• MyVariant Identifiers: chr2:g.31751310C>A (hg19) ; chr2:g.31526240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526240C>A , CM000664.2:g.31526240C>A	GRCh38
NC_000002.11:g.31751310C>A , CM000664.1:g.31751310C>A	GRCh37
NC_000002.10:g.31604814C>A	NCBI36
NG_008365.1:g.59732G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.721G>T MANE Select	ENSP00000477587.1:p.Asp241Tyr
ENST00000622030.1:c.721G>T	ENSP00000477587.1:p.Asp241Tyr
NM_000348.3:c.721G>T	NP_000339.2:p.Asp241Tyr
XM_011533069.1:c.499G>T	XP_011531371.1:p.Asp167Tyr
XM_011533070.1:c.466G>T	XP_011531372.1:p.Asp156Tyr
XM_011533071.1:c.466G>T	XP_011531373.1:p.Asp156Tyr
XM_011533072.1:c.466G>T	XP_011531374.1:p.Asp156Tyr
XM_011533069.2:c.499G>T	XP_011531371.1:p.Asp167Tyr
XM_011533072.2:c.466G>T	XP_011531374.1:p.Asp156Tyr
NM_000348.4:c.721G>T MANE Select	NP_000339.2:p.Asp241Tyr