Canonical Allele Identifier: CA658822360

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 548143
• ClinVar RCV Id: RCV000660881
• dbSNP Id: rs1553329427
• MyVariant Identifiers: chr2:g.31805753del (hg19) ; chr2:g.31580683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580683del , CM000664.2:g.31580683del	GRCh38
NC_000002.11:g.31805753del , CM000664.1:g.31805753del	GRCh37
NC_000002.10:g.31659257del	NCBI36
NG_008365.1:g.5289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.218del MANE Select	ENSP00000477587.1:p.Leu73ProfsTer?
ENST00000622030.1:c.218del	ENSP00000477587.1:p.Leu73ProfsTer?
NM_000348.3:c.218del	NP_000339.2:p.Leu73ProfsTer?
XM_011533068.1:c.218del	XP_011531370.1:p.Leu73ProfsTer?
XM_011533070.1:c.27-46917del	XP_011531372.1:n.27-46917del
XM_011533071.1:c.27-46917del	XP_011531373.1:n.27-46917del
XM_011533072.1:c.27-46917del	XP_011531374.1:n.27-46917del
XM_011533072.2:c.27-46917del	XP_011531374.1:n.27-46917del
NM_000348.4:c.218del MANE Select	NP_000339.2:p.Leu73ProfsTer?