Canonical Allele Identifier: CA2658498390

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531224-A-AGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531224_31531225insGC , CM000664.2:g.31531224_31531225insGC	GRCh38
NC_000002.11:g.31756294_31756295insGC , CM000664.1:g.31756294_31756295insGC	GRCh37
NC_000002.10:g.31609798_31609799insGC	NCBI36
NG_008365.1:g.54747_54748insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+146_547+147insGC MANE Select	ENSP00000477587.1:n.547+146_547+147insGC
ENST00000622030.1:c.547+146_547+147insGC	ENSP00000477587.1:n.547+146_547+147insGC
NM_000348.3:c.547+146_547+147insGC	NP_000339.2:n.547+146_547+147insGC
XM_011533069.1:c.325+146_325+147insGC	XP_011531371.1:n.325+146_325+147insGC
XM_011533070.1:c.292+146_292+147insGC	XP_011531372.1:n.292+146_292+147insGC
XM_011533071.1:c.292+146_292+147insGC	XP_011531373.1:n.292+146_292+147insGC
XM_011533072.1:c.292+146_292+147insGC	XP_011531374.1:n.292+146_292+147insGC
XM_011533069.2:c.325+146_325+147insGC	XP_011531371.1:n.325+146_325+147insGC
XM_011533072.2:c.292+146_292+147insGC	XP_011531374.1:n.292+146_292+147insGC
NM_000348.4:c.547+146_547+147insGC MANE Select	NP_000339.2:n.547+146_547+147insGC