Canonical Allele Identifier: CA531769317

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1235171539
• gnomAD v2: 2-31805674-AAG-A
• gnomAD v4: 2-31580604-AAG-A
• MyVariant Identifiers: chr2:g.31805675_31805676del (hg19) ; chr2:g.31580605_31580606del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580605_31580606del , CM000664.2:g.31580605_31580606del	GRCh38
NC_000002.11:g.31805675_31805676del , CM000664.1:g.31805675_31805676del	GRCh37
NC_000002.10:g.31659179_31659180del	NCBI36
NG_008365.1:g.5366_5367del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+14_281+15del MANE Select	ENSP00000477587.1:n.281+14_281+15del
ENST00000622030.1:c.281+14_281+15del	ENSP00000477587.1:n.281+14_281+15del
NM_000348.3:c.281+14_281+15del	NP_000339.2:n.281+14_281+15del
XM_011533068.1:c.281+14_281+15del	XP_011531370.1:n.281+14_281+15del
XM_011533070.1:c.27-46840_27-46839del	XP_011531372.1:n.27-46840_27-46839del
XM_011533071.1:c.27-46840_27-46839del	XP_011531373.1:n.27-46840_27-46839del
XM_011533072.1:c.27-46840_27-46839del	XP_011531374.1:n.27-46840_27-46839del
XM_011533072.2:c.27-46840_27-46839del	XP_011531374.1:n.27-46840_27-46839del
NM_000348.4:c.281+14_281+15del MANE Select	NP_000339.2:n.281+14_281+15del