Canonical Allele Identifier: CA2586969027

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31529440-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529442_31529443del , CM000664.2:g.31529442_31529443del	GRCh38
NC_000002.11:g.31754512_31754513del , CM000664.1:g.31754512_31754513del	GRCh37
NC_000002.10:g.31608016_31608017del	NCBI36
NG_008365.1:g.56530_56531del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.563_564del MANE Select	ENSP00000477587.1:p.Tyr188CysfsTer9
ENST00000622030.1:c.563_564del	ENSP00000477587.1:p.Tyr188CysfsTer9
NM_000348.3:c.563_564del	NP_000339.2:p.Tyr188CysfsTer9
XM_011533069.1:c.341_342del	XP_011531371.1:p.Tyr114CysfsTer9
XM_011533070.1:c.308_309del	XP_011531372.1:p.Tyr103CysfsTer9
XM_011533071.1:c.308_309del	XP_011531373.1:p.Tyr103CysfsTer9
XM_011533072.1:c.308_309del	XP_011531374.1:p.Tyr103CysfsTer9
XM_011533069.2:c.341_342del	XP_011531371.1:p.Tyr114CysfsTer9
XM_011533072.2:c.308_309del	XP_011531374.1:p.Tyr103CysfsTer9
NM_000348.4:c.563_564del MANE Select	NP_000339.2:p.Tyr188CysfsTer9