Canonical Allele Identifier: CA45136783

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 973246
• ClinVar RCV Id: RCV001249654
• dbSNP Id: rs767595335
• gnomAD v2: 2-31758800-AG-A
• gnomAD v3: 2-31533730-AG-A
• gnomAD v4: 2-31533730-AG-A
• MyVariant Identifiers: chr2:g.31758801del (hg19) ; chr2:g.31533731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533732del , CM000664.2:g.31533732del	GRCh38
NC_000002.11:g.31758802del , CM000664.1:g.31758802del	GRCh37
NC_000002.10:g.31612306del	NCBI36
NG_008365.1:g.52241del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.317del MANE Select	ENSP00000477587.1:p.Pro106LeufsTer25
ENST00000622030.1:c.317del	ENSP00000477587.1:p.Pro106LeufsTer25
NM_000348.3:c.317del	NP_000339.2:p.Pro106LeufsTer25
XM_011533068.1:c.317del	XP_011531370.1:p.Pro106LeufsTer25
XM_011533069.1:c.95del	XP_011531371.1:p.Pro32LeufsTer25
XM_011533070.1:c.62del	XP_011531372.1:p.Pro21LeufsTer25
XM_011533071.1:c.62del	XP_011531373.1:p.Pro21LeufsTer25
XM_011533072.1:c.62del	XP_011531374.1:p.Pro21LeufsTer25
XM_011533069.2:c.95del	XP_011531371.1:p.Pro32LeufsTer25
XM_011533072.2:c.62del	XP_011531374.1:p.Pro21LeufsTer25
NM_000348.4:c.317del MANE Select	NP_000339.2:p.Pro106LeufsTer25