Canonical Allele Identifier: CA45136779

Gene: SRD5A2

Linked Data

• dbSNP Id: rs869154116
• MyVariant Identifiers: chr2:g.31758753del (hg19) ; chr2:g.31533683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533685del , CM000664.2:g.31533685del	GRCh38
NC_000002.11:g.31758755del , CM000664.1:g.31758755del	GRCh37
NC_000002.10:g.31612259del	NCBI36
NG_008365.1:g.52289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.365del MANE Select	ENSP00000477587.1:p.Asn122MetfsTer9
ENST00000622030.1:c.365del	ENSP00000477587.1:p.Asn122MetfsTer9
NM_000348.3:c.365del	NP_000339.2:p.Asn122MetfsTer9
XM_011533068.1:c.365del	XP_011531370.1:p.Asn122MetfsTer9
XM_011533069.1:c.143del	XP_011531371.1:p.Asn48MetfsTer9
XM_011533070.1:c.110del	XP_011531372.1:p.Asn37MetfsTer9
XM_011533071.1:c.110del	XP_011531373.1:p.Asn37MetfsTer9
XM_011533072.1:c.110del	XP_011531374.1:p.Asn37MetfsTer9
XM_011533069.2:c.143del	XP_011531371.1:p.Asn48MetfsTer9
XM_011533072.2:c.110del	XP_011531374.1:p.Asn37MetfsTer9
NM_000348.4:c.365del MANE Select	NP_000339.2:p.Asn122MetfsTer9