Canonical Allele Identifier: CA531712594

Gene: SRD5A2

Linked Data

• gnomAD v2: 2-31756523-CA-C
• gnomAD v4: 2-31531453-CA-C
• MyVariant Identifiers: chr2:g.31756524del (hg19) ; chr2:g.31531454del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531457del , CM000664.2:g.31531457del	GRCh38
NC_000002.11:g.31756527del , CM000664.1:g.31756527del	GRCh37
NC_000002.10:g.31610031del	NCBI36
NG_008365.1:g.54518del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.464del MANE Select	ENSP00000477587.1:p.Leu155TrpfsTer5
ENST00000622030.1:c.464del	ENSP00000477587.1:p.Leu155TrpfsTer5
NM_000348.3:c.464del	NP_000339.2:p.Leu155TrpfsTer5
XM_011533069.1:c.242del	XP_011531371.1:p.Leu81TrpfsTer5
XM_011533070.1:c.209del	XP_011531372.1:p.Leu70TrpfsTer5
XM_011533071.1:c.209del	XP_011531373.1:p.Leu70TrpfsTer5
XM_011533072.1:c.209del	XP_011531374.1:p.Leu70TrpfsTer5
XM_011533069.2:c.242del	XP_011531371.1:p.Leu81TrpfsTer5
XM_011533072.2:c.209del	XP_011531374.1:p.Leu70TrpfsTer5
NM_000348.4:c.464del MANE Select	NP_000339.2:p.Leu155TrpfsTer5