Canonical Allele Identifier: CA767787307

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1484728396
• gnomAD v3: 2-31580250-TA-T
• gnomAD v4: 2-31580250-TA-T
• MyVariant Identifiers: chr2:g.31805321del (hg19) ; chr2:g.31580251del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580252del , CM000664.2:g.31580252del	GRCh38
NC_000002.11:g.31805322del , CM000664.1:g.31805322del	GRCh37
NC_000002.10:g.31658826del	NCBI36
NG_008365.1:g.5721del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+369del MANE Select	ENSP00000477587.1:n.281+369del
ENST00000622030.1:c.281+369del	ENSP00000477587.1:n.281+369del
NM_000348.3:c.281+369del	NP_000339.2:n.281+369del
XM_011533068.1:c.281+369del	XP_011531370.1:n.281+369del
XM_011533070.1:c.27-46485del	XP_011531372.1:n.27-46485del
XM_011533071.1:c.27-46485del	XP_011531373.1:n.27-46485del
XM_011533072.1:c.27-46485del	XP_011531374.1:n.27-46485del
XM_011533072.2:c.27-46485del	XP_011531374.1:n.27-46485del
NM_000348.4:c.281+369del MANE Select	NP_000339.2:n.281+369del