Canonical Allele Identifier: CA1028968896

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1666754577
• gnomAD v3: 2-31567439-T-TGC
• gnomAD v4: 2-31567439-T-TGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567440_31567441insCG , CM000664.2:g.31567440_31567441insCG	GRCh38
NC_000002.11:g.31792510_31792511insCG , CM000664.1:g.31792510_31792511insCG	GRCh37
NC_000002.10:g.31646014_31646015insCG	NCBI36
NG_008365.1:g.18532_18533insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13180_281+13181insGC MANE Select	ENSP00000477587.1:n.281+13180_281+13181insGC
ENST00000622030.1:c.281+13180_281+13181insGC	ENSP00000477587.1:n.281+13180_281+13181insGC
NM_000348.3:c.281+13180_281+13181insGC	NP_000339.2:n.281+13180_281+13181insGC
XM_011533068.1:c.281+13180_281+13181insGC	XP_011531370.1:n.281+13180_281+13181insGC
XM_011533070.1:c.27-33674_27-33673insGC	XP_011531372.1:n.27-33674_27-33673insGC
XM_011533071.1:c.27-33674_27-33673insGC	XP_011531373.1:n.27-33674_27-33673insGC
XM_011533072.1:c.27-33674_27-33673insGC	XP_011531374.1:n.27-33674_27-33673insGC
XM_011533072.2:c.27-33674_27-33673insGC	XP_011531374.1:n.27-33674_27-33673insGC
NM_000348.4:c.281+13180_281+13181insGC MANE Select	NP_000339.2:n.281+13180_281+13181insGC