Canonical Allele Identifier: CA767779323

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1553327758
• gnomAD v3: 2-31567456-G-GTATATATATATATATATA
• gnomAD v4: 2-31567456-G-GTATATATATATATATATA
• MyVariant Identifiers: chr2:g.31792526_31792527insTATATATATATATATATA (hg19) ; chr2:g.31567456_31567457insTATATATATATATATATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567473_31567474insATATATATATATATATAT , CM000664.2:g.31567473_31567474insATATATATATATATATAT	GRCh38
NC_000002.11:g.31792543_31792544insATATATATATATATATAT , CM000664.1:g.31792543_31792544insATATATATATATATATAT	GRCh37
NC_000002.10:g.31646047_31646048insATATATATATATATATAT	NCBI36
NG_008365.1:g.18515_18516insTATATATATATATATATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13163_281+13164insTATATATATATATATATA MANE Select	ENSP00000477587.1:n.281+13163_281+13164insTATATATATATATATATA
ENST00000622030.1:c.281+13163_281+13164insTATATATATATATATATA	ENSP00000477587.1:n.281+13163_281+13164insTATATATATATATATATA
NM_000348.3:c.281+13163_281+13164insTATATATATATATATATA	NP_000339.2:n.281+13163_281+13164insTATATATATATATATATA
XM_011533068.1:c.281+13163_281+13164insTATATATATATATATATA	XP_011531370.1:n.281+13163_281+13164insTATATATATATATATATA
XM_011533070.1:c.27-33691_27-33690insTATATATATATATATATA	XP_011531372.1:n.27-33691_27-33690insTATATATATATATATATA
XM_011533071.1:c.27-33691_27-33690insTATATATATATATATATA	XP_011531373.1:n.27-33691_27-33690insTATATATATATATATATA
XM_011533072.1:c.27-33691_27-33690insTATATATATATATATATA	XP_011531374.1:n.27-33691_27-33690insTATATATATATATATATA
XM_011533072.2:c.27-33691_27-33690insTATATATATATATATATA	XP_011531374.1:n.27-33691_27-33690insTATATATATATATATATA
NM_000348.4:c.281+13163_281+13164insTATATATATATATATATA MANE Select	NP_000339.2:n.281+13163_281+13164insTATATATATATATATATA