Canonical Allele Identifier: CA3429844

Gene: REEP2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138445333C>T , CM000667.2:g.138445333C>T	GRCh38
NC_000005.9:g.137781022C>T , CM000667.1:g.137781022C>T	GRCh37
NC_000005.8:g.137808921C>T	NCBI36
NG_033967.1:g.11333C>T
NG_033967.2:g.11333C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001271803.2:c.523C>T MANE Select	NP_001258732.1:p.Arg175Ter
ENST00000378339.7:c.523C>T MANE Select	ENSP00000367590.2:p.Arg175Ter
NM_001271803.1:c.523C>T	NP_001258732.1:p.Arg175Ter
NM_016606.3:c.517C>T	NP_057690.2:p.Arg173Ter
NM_016606.4:c.517C>T	NP_057690.2:p.Arg173Ter
NR_073448.1:n.800C>T
NR_073448.2:n.744C>T
NR_073449.1:n.806C>T
NR_073449.2:n.750C>T
ENST00000254901.9:c.517C>T	ENSP00000254901.5:p.Arg173Ter
ENST00000378339.6:c.523C>T	ENSP00000367590.2:p.Arg175Ter
ENST00000504163.1:n.336C>T
ENST00000506158.5:c.403C>T	ENSP00000422530.1:p.Arg135Ter
ENST00000507511.5:c.*323C>T	ENSP00000424441.1:n.*323C>T
ENST00000507635.5:n.428C>T
ENST00000613650.1:c.407C>T	ENSP00000479268.1:p.Pro136Leu