Canonical Allele Identifier: CA767761623

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2734143
• ClinVar RCV Id: RCV003501685
• dbSNP Id: rs1224600457
• MyVariant Identifiers: chr2:g.31758700del (hg19) ; chr2:g.31533630del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533630del , CM000664.2:g.31533630del	GRCh38
NC_000002.11:g.31758700del , CM000664.1:g.31758700del	GRCh37
NC_000002.10:g.31612204del	NCBI36
NG_008365.1:g.52342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.418del MANE Select	ENSP00000477587.1:p.Trp140GlyfsTer20
ENST00000622030.1:c.418del	ENSP00000477587.1:p.Trp140GlyfsTer20
NM_000348.3:c.418del	NP_000339.2:p.Trp140GlyfsTer20
XM_011533068.1:c.418del	XP_011531370.1:p.Trp140GlyfsTer?
XM_011533069.1:c.196del	XP_011531371.1:p.Trp66GlyfsTer20
XM_011533070.1:c.163del	XP_011531372.1:p.Trp55GlyfsTer20
XM_011533071.1:c.163del	XP_011531373.1:p.Trp55GlyfsTer20
XM_011533072.1:c.163del	XP_011531374.1:p.Trp55GlyfsTer20
XM_011533069.2:c.196del	XP_011531371.1:p.Trp66GlyfsTer20
XM_011533072.2:c.163del	XP_011531374.1:p.Trp55GlyfsTer20
NM_000348.4:c.418del MANE Select	NP_000339.2:p.Trp140GlyfsTer20