Canonical Allele Identifier: CA1242220969

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1667053025

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580563_31580564insC , CM000664.2:g.31580563_31580564insC	GRCh38
NC_000002.11:g.31805633_31805634insC , CM000664.1:g.31805633_31805634insC	GRCh37
NC_000002.10:g.31659137_31659138insC	NCBI36
NG_008365.1:g.5408_5409insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+56_281+57insG MANE Select	ENSP00000477587.1:n.281+56_281+57insG
ENST00000622030.1:c.281+56_281+57insG	ENSP00000477587.1:n.281+56_281+57insG
NM_000348.3:c.281+56_281+57insG	NP_000339.2:n.281+56_281+57insG
XM_011533068.1:c.281+56_281+57insG	XP_011531370.1:n.281+56_281+57insG
XM_011533070.1:c.27-46798_27-46797insG	XP_011531372.1:n.27-46798_27-46797insG
XM_011533071.1:c.27-46798_27-46797insG	XP_011531373.1:n.27-46798_27-46797insG
XM_011533072.1:c.27-46798_27-46797insG	XP_011531374.1:n.27-46798_27-46797insG
XM_011533072.2:c.27-46798_27-46797insG	XP_011531374.1:n.27-46798_27-46797insG
NM_000348.4:c.281+56_281+57insG MANE Select	NP_000339.2:n.281+56_281+57insG