Canonical Allele Identifier: CA425570957

Gene: SRD5A2

Linked Data

• dbSNP Id: rs143408801
• gnomAD v3: 2-31567456-G-GTGTGTATA
• gnomAD v4: 2-31567456-G-GTGTGTATA
• MyVariant Identifiers: chr2:g.31792526_31792527insTGTGTATA (hg19) ; chr2:g.31567456_31567457insTGTGTATA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567457_31567458insGTGTATAT , CM000664.2:g.31567457_31567458insGTGTATAT	GRCh38
NC_000002.11:g.31792527_31792528insGTGTATAT , CM000664.1:g.31792527_31792528insGTGTATAT	GRCh37
NC_000002.10:g.31646031_31646032insGTGTATAT	NCBI36
NG_008365.1:g.18515_18516insTATACACA

Transcript Alleles

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