Canonical Allele Identifier: CA531712319

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1170486971
• gnomAD v2: 2-31756412-TGA-T
• gnomAD v4: 2-31531342-TGA-T
• MyVariant Identifiers: chr2:g.31756413_31756414del (hg19) ; chr2:g.31531343_31531344del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531346_31531347del , CM000664.2:g.31531346_31531347del	GRCh38
NC_000002.11:g.31756416_31756417del , CM000664.1:g.31756416_31756417del	GRCh37
NC_000002.10:g.31609920_31609921del	NCBI36
NG_008365.1:g.54628_54629del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+27_547+28del MANE Select	ENSP00000477587.1:n.547+27_547+28del
ENST00000622030.1:c.547+27_547+28del	ENSP00000477587.1:n.547+27_547+28del
NM_000348.3:c.547+27_547+28del	NP_000339.2:n.547+27_547+28del
XM_011533069.1:c.325+27_325+28del	XP_011531371.1:n.325+27_325+28del
XM_011533070.1:c.292+27_292+28del	XP_011531372.1:n.292+27_292+28del
XM_011533071.1:c.292+27_292+28del	XP_011531373.1:n.292+27_292+28del
XM_011533072.1:c.292+27_292+28del	XP_011531374.1:n.292+27_292+28del
XM_011533069.2:c.325+27_325+28del	XP_011531371.1:n.325+27_325+28del
XM_011533072.2:c.292+27_292+28del	XP_011531374.1:n.292+27_292+28del
NM_000348.4:c.547+27_547+28del MANE Select	NP_000339.2:n.547+27_547+28del