Canonical Allele Identifier: CA531712579

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1400952266
• gnomAD v2: 2-31756492-T-TTC
• MyVariant Identifiers: chr2:g.31756492_31756493insTC (hg19) ; chr2:g.31531422_31531423insTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531422_31531423insTC , CM000664.2:g.31531422_31531423insTC	GRCh38
NC_000002.11:g.31756492_31756493insTC , CM000664.1:g.31756492_31756493insTC	GRCh37
NC_000002.10:g.31609996_31609997insTC	NCBI36
NG_008365.1:g.54549_54550insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.495_496insGA MANE Select	ENSP00000477587.1:p.Ile166GlufsTer?
ENST00000622030.1:c.495_496insGA	ENSP00000477587.1:p.Ile166GlufsTer?
NM_000348.3:c.495_496insGA	NP_000339.2:p.Ile166GlufsTer?
XM_011533069.1:c.273_274insGA	XP_011531371.1:p.Ile92GlufsTer?
XM_011533070.1:c.240_241insGA	XP_011531372.1:p.Ile81GlufsTer?
XM_011533071.1:c.240_241insGA	XP_011531373.1:p.Ile81GlufsTer?
XM_011533072.1:c.240_241insGA	XP_011531374.1:p.Ile81GlufsTer?
XM_011533069.2:c.273_274insGA	XP_011531371.1:p.Ile92GlufsTer?
XM_011533072.2:c.240_241insGA	XP_011531374.1:p.Ile81GlufsTer?
NM_000348.4:c.495_496insGA MANE Select	NP_000339.2:p.Ile166GlufsTer?