Canonical Allele Identifier: CA531769403

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2875938
• ClinVar RCV Id: RCV003608481
• dbSNP Id: rs1239841070
• gnomAD v2: 2-31758848-AG-A
• gnomAD v3: 2-31533778-AG-A
• gnomAD v4: 2-31533778-AG-A
• MyVariant Identifiers: chr2:g.31758849del (hg19) ; chr2:g.31533779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533781del , CM000664.2:g.31533781del	GRCh38
NC_000002.11:g.31758851del , CM000664.1:g.31758851del	GRCh37
NC_000002.10:g.31612355del	NCBI36
NG_008365.1:g.52193del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.282-13del MANE Select	ENSP00000477587.1:n.282-13del
ENST00000622030.1:c.282-13del	ENSP00000477587.1:n.282-13del
NM_000348.3:c.282-13del	NP_000339.2:n.282-13del
XM_011533068.1:c.282-13del	XP_011531370.1:n.282-13del
XM_011533069.1:c.60-13del	XP_011531371.1:n.60-13del
XM_011533070.1:c.27-13del	XP_011531372.1:n.27-13del
XM_011533071.1:c.27-13del	XP_011531373.1:n.27-13del
XM_011533072.1:c.27-13del	XP_011531374.1:n.27-13del
XM_011533069.2:c.60-13del	XP_011531371.1:n.60-13del
XM_011533072.2:c.27-13del	XP_011531374.1:n.27-13del
NM_000348.4:c.282-13del MANE Select	NP_000339.2:n.282-13del