Canonical Allele Identifier: CA1242198224

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1665898886

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531202_31531204del , CM000664.2:g.31531202_31531204del	GRCh38
NC_000002.11:g.31756272_31756274del , CM000664.1:g.31756272_31756274del	GRCh37
NC_000002.10:g.31609776_31609778del	NCBI36
NG_008365.1:g.54768_54770del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+167_547+169del MANE Select	ENSP00000477587.1:n.547+167_547+169del
ENST00000622030.1:c.547+167_547+169del	ENSP00000477587.1:n.547+167_547+169del
NM_000348.3:c.547+167_547+169del	NP_000339.2:n.547+167_547+169del
XM_011533069.1:c.325+167_325+169del	XP_011531371.1:n.325+167_325+169del
XM_011533070.1:c.292+167_292+169del	XP_011531372.1:n.292+167_292+169del
XM_011533071.1:c.292+167_292+169del	XP_011531373.1:n.292+167_292+169del
XM_011533072.1:c.292+167_292+169del	XP_011531374.1:n.292+167_292+169del
XM_011533069.2:c.325+167_325+169del	XP_011531371.1:n.325+167_325+169del
XM_011533072.2:c.292+167_292+169del	XP_011531374.1:n.292+167_292+169del
NM_000348.4:c.547+167_547+169del MANE Select	NP_000339.2:n.547+167_547+169del