Canonical Allele Identifier: CA3429872

Gene: REEP2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138445507C>T , CM000667.2:g.138445507C>T	GRCh38
NC_000005.9:g.137781196C>T , CM000667.1:g.137781196C>T	GRCh37
NC_000005.8:g.137809095C>T	NCBI36
NG_033967.1:g.11507C>T
NG_033967.2:g.11507C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001271803.2:c.605C>T MANE Select	NP_001258732.1:p.Pro202Leu
ENST00000378339.7:c.605C>T MANE Select	ENSP00000367590.2:p.Pro202Leu
NM_001271803.1:c.605C>T	NP_001258732.1:p.Pro202Leu
NM_016606.3:c.599C>T	NP_057690.2:p.Pro200Leu
NM_016606.4:c.599C>T	NP_057690.2:p.Pro200Leu
NR_073448.1:n.882C>T
NR_073448.2:n.826C>T
NR_073449.1:n.888C>T
NR_073449.2:n.832C>T
ENST00000254901.9:c.599C>T	ENSP00000254901.5:p.Pro200Leu
ENST00000378339.6:c.605C>T	ENSP00000367590.2:p.Pro202Leu
ENST00000504163.1:n.418C>T
ENST00000506158.5:c.485C>T	ENSP00000422530.1:p.Pro162Leu
ENST00000507635.5:n.510C>T
ENST00000613650.1:c.*33C>T	ENSP00000479268.1:n.*33C>T