Canonical Allele Identifier: CA2658498714

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31531444-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531447del , CM000664.2:g.31531447del	GRCh38
NC_000002.11:g.31756517del , CM000664.1:g.31756517del	GRCh37
NC_000002.10:g.31610021del	NCBI36
NG_008365.1:g.54527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.473del MANE Select	ENSP00000477587.1:p.Gly158GlufsTer2
ENST00000622030.1:c.473del	ENSP00000477587.1:p.Gly158GlufsTer2
NM_000348.3:c.473del	NP_000339.2:p.Gly158GlufsTer2
XM_011533069.1:c.251del	XP_011531371.1:p.Gly84GlufsTer2
XM_011533070.1:c.218del	XP_011531372.1:p.Gly73GlufsTer2
XM_011533071.1:c.218del	XP_011531373.1:p.Gly73GlufsTer2
XM_011533072.1:c.218del	XP_011531374.1:p.Gly73GlufsTer2
XM_011533069.2:c.251del	XP_011531371.1:p.Gly84GlufsTer2
XM_011533072.2:c.218del	XP_011531374.1:p.Gly73GlufsTer2
NM_000348.4:c.473del MANE Select	NP_000339.2:p.Gly158GlufsTer2