Canonical Allele Identifier: CA1599933

Gene: SRD5A2

Linked Data

• dbSNP Id: rs780468223
• ExAC: 2:31756569 AT / A
• gnomAD v2: 2-31756569-AT-A
• gnomAD v3: 2-31531499-AT-A
• gnomAD v4: 2-31531499-AT-A
• COSMIC: COSN20058957
• MyVariant Identifiers: chr2:g.31756570del (hg19) ; chr2:g.31531500del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531507del , CM000664.2:g.31531507del	GRCh38
NC_000002.11:g.31756577del , CM000664.1:g.31756577del	GRCh37
NC_000002.10:g.31610081del	NCBI36
NG_008365.1:g.54472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.446-28del MANE Select	ENSP00000477587.1:n.446-28del
ENST00000622030.1:c.446-28del	ENSP00000477587.1:n.446-28del
NM_000348.3:c.446-28del	NP_000339.2:n.446-28del
XM_011533069.1:c.224-28del	XP_011531371.1:n.224-28del
XM_011533070.1:c.191-28del	XP_011531372.1:n.191-28del
XM_011533071.1:c.191-28del	XP_011531373.1:n.191-28del
XM_011533072.1:c.191-28del	XP_011531374.1:n.191-28del
XM_011533069.2:c.224-28del	XP_011531371.1:n.224-28del
XM_011533072.2:c.191-28del	XP_011531374.1:n.191-28del
NM_000348.4:c.446-28del MANE Select	NP_000339.2:n.446-28del