Canonical Allele Identifier: CA767761813

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1255191736
• gnomAD v3: 2-31533714-TGA-T
• gnomAD v4: 2-31533714-TGA-T
• MyVariant Identifiers: chr2:g.31758785_31758786del (hg19) ; chr2:g.31533715_31533716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533716_31533717del , CM000664.2:g.31533716_31533717del	GRCh38
NC_000002.11:g.31758786_31758787del , CM000664.1:g.31758786_31758787del	GRCh37
NC_000002.10:g.31612290_31612291del	NCBI36
NG_008365.1:g.52256_52257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.332_333del MANE Select	ENSP00000477587.1:p.Leu111HisfsTer24
ENST00000622030.1:c.332_333del	ENSP00000477587.1:p.Leu111HisfsTer24
NM_000348.3:c.332_333del	NP_000339.2:p.Leu111HisfsTer24
XM_011533068.1:c.332_333del	XP_011531370.1:p.Leu111HisfsTer24
XM_011533069.1:c.110_111del	XP_011531371.1:p.Leu37HisfsTer24
XM_011533070.1:c.77_78del	XP_011531372.1:p.Leu26HisfsTer24
XM_011533071.1:c.77_78del	XP_011531373.1:p.Leu26HisfsTer24
XM_011533072.1:c.77_78del	XP_011531374.1:p.Leu26HisfsTer24
XM_011533069.2:c.110_111del	XP_011531371.1:p.Leu37HisfsTer24
XM_011533072.2:c.77_78del	XP_011531374.1:p.Leu26HisfsTer24
NM_000348.4:c.332_333del MANE Select	NP_000339.2:p.Leu111HisfsTer24