Canonical Allele Identifier: CA361105443

Gene: REEP2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.138445600T>G , CM000667.2:g.138445600T>G	GRCh38
NC_000005.9:g.137781289T>G , CM000667.1:g.137781289T>G	GRCh37
NC_000005.8:g.137809188T>G	NCBI36
NG_033967.1:g.11600T>G
NG_033967.2:g.11600T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001271803.2:c.696+2T>G MANE Select	NP_001258732.1:n.696+2T>G
ENST00000378339.7:c.696+2T>G MANE Select	ENSP00000367590.2:n.696+2T>G
NM_001271803.1:c.696+2T>G	NP_001258732.1:n.696+2T>G
NM_016606.3:c.690+2T>G	NP_057690.2:n.690+2T>G
NM_016606.4:c.690+2T>G	NP_057690.2:n.690+2T>G
NR_073448.1:n.973+2T>G
NR_073448.2:n.917+2T>G
NR_073449.1:n.979+2T>G
NR_073449.2:n.923+2T>G
ENST00000254901.9:c.690+2T>G	ENSP00000254901.5:n.690+2T>G
ENST00000378339.6:c.696+2T>G	ENSP00000367590.2:n.696+2T>G
ENST00000504163.1:n.509+2T>G
ENST00000506158.5:c.576+2T>G	ENSP00000422530.1:n.576+2T>G
ENST00000507635.5:n.601+2T>G
ENST00000613650.1:c.*124+2T>G	ENSP00000479268.1:n.*124+2T>G