Canonical Allele Identifier: CA531720452

Gene: SRD5A2

Linked Data

• dbSNP Id: rs575917234
• gnomAD v2: 2-31792524-G-GTATATATATA
• gnomAD v3: 2-31567454-G-GTATATATATA
• gnomAD v4: 2-31567454-G-GTATATATATA
• MyVariant Identifiers: chr2:g.31792526_31792528delinsATATATATATGTA (hg19) ; chr2:g.31792524_31792525insTATATATATA (hg19) ; chr2:g.31567456_31567458delinsATATATATATGTA (hg38) ; chr2:g.31567454_31567455insTATATATATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567455_31567456insATATATATAT , CM000664.2:g.31567455_31567456insATATATATAT	GRCh38
NC_000002.11:g.31792525_31792526insATATATATAT , CM000664.1:g.31792525_31792526insATATATATAT	GRCh37
NC_000002.10:g.31646029_31646030insATATATATAT	NCBI36
NG_008365.1:g.18517_18518insTATATATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13165_281+13166insTATATATATA MANE Select	ENSP00000477587.1:n.281+13165_281+13166insTATATATATA
ENST00000622030.1:c.281+13165_281+13166insTATATATATA	ENSP00000477587.1:n.281+13165_281+13166insTATATATATA
NM_000348.3:c.281+13165_281+13166insTATATATATA	NP_000339.2:n.281+13165_281+13166insTATATATATA
XM_011533068.1:c.281+13165_281+13166insTATATATATA	XP_011531370.1:n.281+13165_281+13166insTATATATATA
XM_011533070.1:c.27-33689_27-33688insTATATATATA	XP_011531372.1:n.27-33689_27-33688insTATATATATA
XM_011533071.1:c.27-33689_27-33688insTATATATATA	XP_011531373.1:n.27-33689_27-33688insTATATATATA
XM_011533072.1:c.27-33689_27-33688insTATATATATA	XP_011531374.1:n.27-33689_27-33688insTATATATATA
XM_011533072.2:c.27-33689_27-33688insTATATATATA	XP_011531374.1:n.27-33689_27-33688insTATATATATA
NM_000348.4:c.281+13165_281+13166insTATATATATA MANE Select	NP_000339.2:n.281+13165_281+13166insTATATATATA