Canonical Allele Identifier: CA129967

Gene: REEP1

Linked Data

• ClinVar Variation Id: 35598
• ClinVar RCV Id: RCV000029244 ; RCV000789557
• dbSNP Id: rs387907242
• MyVariant Identifiers: chr2:g.86479195T>C (hg19) ; chr2:g.86252072T>C (hg38)
• PubMed: PMID:22703882

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.86252072T>C , CM000664.2:g.86252072T>C	GRCh38
NC_000002.11:g.86479195T>C , CM000664.1:g.86479195T>C	GRCh37
NC_000002.10:g.86332706T>C	NCBI36
NG_013037.1:g.91012A>G , LRG_713:g.91012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643817.2:c.304-2A>G	ENSP00000495610.2:n.304-2A>G
ENST00000686220.1:c.223-2A>G	ENSP00000509904.1:n.223-2A>G
ENST00000688400.1:c.106-19270A>G	ENSP00000510490.1:n.106-19270A>G
ENST00000689156.1:c.304-2A>G	ENSP00000509143.1:n.304-2A>G
ENST00000691093.1:c.124-2A>G	ENSP00000509465.1:n.124-2A>G
ENST00000691703.1:c.304-2A>G	ENSP00000508496.1:n.304-2A>G
ENST00000692664.1:c.154-2A>G	ENSP00000508656.1:n.154-2A>G
ENST00000693329.1:c.304-2A>G	ENSP00000508490.1:n.304-2A>G
ENST00000453231.6:c.325-2A>G	ENSP00000392197.2:n.325-2A>G
ENST00000535845.6:c.223-2A>G	ENSP00000437567.1:n.223-2A>G
ENST00000538924.7:c.304-2A>G MANE Select	ENSP00000438346.3:n.304-2A>G
ENST00000541910.6:c.182+11893A>G	ENSP00000442681.1:n.182+11893A>G
ENST00000642243.1:c.262-2A>G	ENSP00000494960.1:n.262-2A>G
ENST00000643817.1:c.262-2A>G	ENSP00000495610.1:n.262-2A>G
ENST00000644644.1:c.262-2A>G	ENSP00000494305.1:n.262-2A>G
ENST00000165698.9:c.304-2A>G	ENSP00000165698.5:n.304-2A>G
ENST00000428491.5:c.223-2A>G	ENSP00000400607.1:n.223-2A>G
ENST00000437769.5:c.182+11893A>G	ENSP00000401140.1:n.182+11893A>G
ENST00000453231.5:c.325-2A>G	ENSP00000392197.1:n.325-2A>G
ENST00000473407.5:n.394-2A>G
ENST00000489855.2:c.240-2A>G
ENST00000490915.5:n.326-2A>G
ENST00000535845.5:c.223-2A>G	ENSP00000437567.1:n.223-2A>G
ENST00000538924.5:c.325-2A>G	ENSP00000438346.1:n.325-2A>G
ENST00000541910.5:c.182+11893A>G	ENSP00000442681.1:n.182+11893A>G
NM_001164730.1:c.325-2A>G , LRG_713t1:c.325-2A>G	NP_001158202.1:n.325-2A>G
NM_001164731.1:c.223-2A>G	NP_001158203.1:n.223-2A>G
NM_001164732.1:c.182+11893A>G	NP_001158204.1:n.182+11893A>G
NM_022912.2:c.304-2A>G , LRG_713t2:c.304-2A>G	NP_075063.1:n.304-2A>G
XM_005264502.1:c.304-2A>G	XP_005264559.1:n.304-2A>G
XM_005264504.1:c.190-2A>G	XP_005264561.1:n.190-2A>G
XM_011533043.1:c.325-2A>G	XP_011531345.1:n.325-2A>G
XM_011533044.1:c.286-2A>G	XP_011531346.1:n.286-2A>G
XM_011533045.1:c.280-2A>G	XP_011531347.1:n.280-2A>G
XM_011533046.1:c.325-2A>G	XP_011531348.1:n.325-2A>G
XM_005264502.2:c.304-2A>G	XP_005264559.1:n.304-2A>G
XM_011533045.2:c.280-2A>G	XP_011531347.1:n.280-2A>G
XM_017004725.1:c.325-2A>G	XP_016860214.1:n.325-2A>G
XM_017004726.1:c.325-2A>G	XP_016860215.1:n.325-2A>G
XM_017004727.1:c.325-2A>G	XP_016860216.1:n.325-2A>G
NM_001164730.2:c.325-2A>G	NP_001158202.1:n.325-2A>G
NM_001164731.2:c.223-2A>G	NP_001158203.1:n.223-2A>G
NM_001164732.2:c.182+11893A>G	NP_001158204.1:n.182+11893A>G
NM_001371279.1:c.304-2A>G MANE Select	NP_001358208.1:n.304-2A>G
NM_001371280.1:c.304-2A>G	NP_001358209.1:n.304-2A>G
NM_022912.3:c.304-2A>G	NP_075063.1:n.304-2A>G