Canonical Allele Identifier: CA1599927

Gene: SRD5A2

Linked Data

• dbSNP Id: rs750121295
• ExAC: 2:31756532 TAAG / T
• gnomAD v2: 2-31756532-TAAG-T
• gnomAD v4: 2-31531462-TAAG-T
• MyVariant Identifiers: chr2:g.31756533_31756535del (hg19) ; chr2:g.31531463_31531465del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531467_31531469del , CM000664.2:g.31531467_31531469del	GRCh38
NC_000002.11:g.31756537_31756539del , CM000664.1:g.31756537_31756539del	GRCh37
NC_000002.10:g.31610041_31610043del	NCBI36
NG_008365.1:g.54507_54509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.453_455del MANE Select	ENSP00000477587.1:p.Phe151del
ENST00000622030.1:c.453_455del	ENSP00000477587.1:p.Phe151del
NM_000348.3:c.453_455del	NP_000339.2:p.Phe151del
XM_011533069.1:c.231_233del	XP_011531371.1:p.Phe77del
XM_011533070.1:c.198_200del	XP_011531372.1:p.Phe66del
XM_011533071.1:c.198_200del	XP_011531373.1:p.Phe66del
XM_011533072.1:c.198_200del	XP_011531374.1:p.Phe66del
XM_011533069.2:c.231_233del	XP_011531371.1:p.Phe77del
XM_011533072.2:c.198_200del	XP_011531374.1:p.Phe66del
NM_000348.4:c.453_455del MANE Select	NP_000339.2:p.Phe151del