Canonical Allele Identifier: CA361103611

Gene: REEP2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138444781C>T , CM000667.2:g.138444781C>T	GRCh38
NC_000005.9:g.137780470C>T , CM000667.1:g.137780470C>T	GRCh37
NC_000005.8:g.137808369C>T	NCBI36
NG_033967.1:g.10781C>T
NG_033967.2:g.10781C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001271803.2:c.331C>T MANE Select	NP_001258732.1:p.Arg111Ter
ENST00000378339.7:c.331C>T MANE Select	ENSP00000367590.2:p.Arg111Ter
NM_001271803.1:c.331C>T	NP_001258732.1:p.Arg111Ter
NM_016606.3:c.331C>T	NP_057690.2:p.Arg111Ter
NM_016606.4:c.331C>T	NP_057690.2:p.Arg111Ter
NR_073448.1:n.614C>T
NR_073448.2:n.558C>T
NR_073449.1:n.614C>T
NR_073449.2:n.558C>T
ENST00000254901.9:c.331C>T	ENSP00000254901.5:p.Arg111Ter
ENST00000378339.6:c.331C>T	ENSP00000367590.2:p.Arg111Ter
ENST00000506158.5:c.217C>T	ENSP00000422530.1:p.Arg73Ter
ENST00000507511.5:c.*131C>T	ENSP00000424441.1:n.*131C>T
ENST00000507635.5:n.236C>T
ENST00000510467.5:n.372C>T
ENST00000512126.5:c.444C>T
ENST00000613650.1:c.217C>T	ENSP00000479268.1:p.Arg73Ter