Canonical Allele Identifier: CA361101336

Gene: REEP2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138441398T>G , CM000667.2:g.138441398T>G	GRCh38
NC_000005.9:g.137777087T>G , CM000667.1:g.137777087T>G	GRCh37
NC_000005.8:g.137804986T>G	NCBI36
NG_033967.1:g.7398T>G
NG_033967.2:g.7398T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001271803.2:c.119T>G MANE Select	NP_001258732.1:p.Met40Arg
ENST00000378339.7:c.119T>G MANE Select	ENSP00000367590.2:p.Met40Arg
NM_001271803.1:c.119T>G	NP_001258732.1:p.Met40Arg
NM_016606.3:c.119T>G	NP_057690.2:p.Met40Arg
NM_016606.4:c.119T>G	NP_057690.2:p.Met40Arg
NR_073448.1:n.402T>G
NR_073448.2:n.346T>G
NR_073449.1:n.402T>G
NR_073449.2:n.346T>G
ENST00000254901.9:c.119T>G	ENSP00000254901.5:p.Met40Arg
ENST00000378339.6:c.119T>G	ENSP00000367590.2:p.Met40Arg
ENST00000464751.6:n.218T>G
ENST00000503379.5:n.217T>G
ENST00000506158.5:c.5T>G	ENSP00000422530.1:p.Met2Arg
ENST00000507511.5:c.105+310T>G	ENSP00000424441.1:n.105+310T>G
ENST00000510467.5:n.160T>G
ENST00000512126.5:c.232T>G
ENST00000613650.1:c.5T>G	ENSP00000479268.1:p.Met2Arg