Canonical Allele Identifier: CA2215857162
Gene: RABEP2 HGNC NCBI

Linked Data

dbSNP Id: rs7184597
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.28910488T>G , CM000678.2:g.28910488T>G GRCh38
NC_000016.9:g.28921809T>G , CM000678.1:g.28921809T>G GRCh37
NC_000016.8:g.28829310T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000358201.9:c.1089+400A>C MANE Select ENSP00000350934.4:n.1089+400A>C
ENST00000357573.10:c.993+400A>C ENSP00000350186.6:n.993+400A>C
ENST00000358201.8:c.1089+400A>C ENSP00000350934.4:n.1089+400A>C
ENST00000544477.5:c.876+400A>C ENSP00000442798.1:n.876+400A>C
ENST00000562590.5:n.2010A>C
NM_024816.2:c.1089+400A>C NP_079092.2:n.1089+400A>C
NM_024816.3:c.1089+400A>C MANE Select NP_079092.2:n.1089+400A>C
Search 100 bp 5'
Search 100 bp 3'