Canonical Allele Identifier: CA346598764

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31580623-T-G
• MyVariant Identifiers: chr2:g.31805693T>G (hg19) ; chr2:g.31580623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580623T>G , CM000664.2:g.31580623T>G	GRCh38
NC_000002.11:g.31805693T>G , CM000664.1:g.31805693T>G	GRCh37
NC_000002.10:g.31659197T>G	NCBI36
NG_008365.1:g.5349A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.278A>C MANE Select	ENSP00000477587.1:p.His93Pro
ENST00000622030.1:c.278A>C	ENSP00000477587.1:p.His93Pro
NM_000348.3:c.278A>C	NP_000339.2:p.His93Pro
XM_011533068.1:c.278A>C	XP_011531370.1:p.His93Pro
XM_011533070.1:c.27-46857A>C	XP_011531372.1:n.27-46857A>C
XM_011533071.1:c.27-46857A>C	XP_011531373.1:n.27-46857A>C
XM_011533072.1:c.27-46857A>C	XP_011531374.1:n.27-46857A>C
XM_011533072.2:c.27-46857A>C	XP_011531374.1:n.27-46857A>C
NM_000348.4:c.278A>C MANE Select	NP_000339.2:p.His93Pro