Canonical Allele Identifier: CA531769321

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1469600869
• gnomAD v2: 2-31805722-AAGTACCGTCCC-A
• gnomAD v4: 2-31580652-AAGTACCGTCCC-A
• MyVariant Identifiers: chr2:g.31805723_31805733del (hg19) ; chr2:g.31580653_31580663del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580655_31580665del , CM000664.2:g.31580655_31580665del	GRCh38
NC_000002.11:g.31805725_31805735del , CM000664.1:g.31805725_31805735del	GRCh37
NC_000002.10:g.31659229_31659239del	NCBI36
NG_008365.1:g.5309_5319del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.238_248del MANE Select	ENSP00000477587.1:p.Gly80SerfsTer?
ENST00000622030.1:c.238_248del	ENSP00000477587.1:p.Gly80SerfsTer?
NM_000348.3:c.238_248del	NP_000339.2:p.Gly80SerfsTer?
XM_011533068.1:c.238_248del	XP_011531370.1:p.Gly80SerfsTer?
XM_011533070.1:c.27-46897_27-46887del	XP_011531372.1:n.27-46897_27-46887del
XM_011533071.1:c.27-46897_27-46887del	XP_011531373.1:n.27-46897_27-46887del
XM_011533072.1:c.27-46897_27-46887del	XP_011531374.1:n.27-46897_27-46887del
XM_011533072.2:c.27-46897_27-46887del	XP_011531374.1:n.27-46897_27-46887del
NM_000348.4:c.238_248del MANE Select	NP_000339.2:p.Gly80SerfsTer?