Canonical Allele Identifier: CA2697547974

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2705703
• ClinVar RCV Id: RCV003501195

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533589del , CM000664.2:g.31533589del	GRCh38
NC_000002.11:g.31758659del , CM000664.1:g.31758659del	GRCh37
NC_000002.10:g.31612163del	NCBI36
NG_008365.1:g.52385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.445+16del MANE Select	ENSP00000477587.1:n.445+16del
ENST00000622030.1:c.445+16del	ENSP00000477587.1:n.445+16del
NM_000348.3:c.445+16del	NP_000339.2:n.445+16del
XM_011533068.1:c.445+16del	XP_011531370.1:n.445+16del
XM_011533069.1:c.223+16del	XP_011531371.1:n.223+16del
XM_011533070.1:c.190+16del	XP_011531372.1:n.190+16del
XM_011533071.1:c.190+16del	XP_011531373.1:n.190+16del
XM_011533072.1:c.190+16del	XP_011531374.1:n.190+16del
XM_011533069.2:c.223+16del	XP_011531371.1:n.223+16del
XM_011533072.2:c.190+16del	XP_011531374.1:n.190+16del
NM_000348.4:c.445+16del MANE Select	NP_000339.2:n.445+16del