Canonical Allele Identifier: CA149706
Community Standard Title: NM_001271803.2(REEP2):c.105+3G>T
Gene: REEP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.138441091G>T , CM000667.2:g.138441091G>T GRCh38
NC_000005.9:g.137776780G>T , CM000667.1:g.137776780G>T GRCh37
NC_000005.8:g.137804679G>T NCBI36
NG_033967.1:g.7091G>T
NG_033967.2:g.7091G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001271803.2:c.105+3G>T MANE Select NP_001258732.1:n.105+3G>T
ENST00000378339.7:c.105+3G>T MANE Select ENSP00000367590.2:n.105+3G>T
NM_001271803.1:c.105+3G>T NP_001258732.1:n.105+3G>T
NM_016606.3:c.105+3G>T NP_057690.2:n.105+3G>T
NM_016606.4:c.105+3G>T NP_057690.2:n.105+3G>T
NR_073448.1:n.388+3G>T
NR_073448.2:n.332+3G>T
NR_073449.1:n.388+3G>T
NR_073449.2:n.332+3G>T
ENST00000254901.9:c.105+3G>T ENSP00000254901.5:n.105+3G>T
ENST00000378339.6:c.105+3G>T ENSP00000367590.2:n.105+3G>T
ENST00000464751.6:n.204+3G>T
ENST00000503379.5:n.203+3G>T
ENST00000506158.5:c.-10+3G>T ENSP00000422530.1:n.-10+3G>T
ENST00000507511.5:c.105+3G>T ENSP00000424441.1:n.105+3G>T
ENST00000510467.5:n.146+3G>T
ENST00000512126.5:c.218+3G>T
ENST00000613650.1:c.-10+3G>T ENSP00000479268.1:n.-10+3G>T