Canonical Allele Identifier: CA2695983244
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs2100914458

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64832993_64832994del , CM000663.2:g.64832993_64832994del GRCh38
NC_000001.10:g.65298676_65298677del , CM000663.1:g.65298676_65298677del GRCh37
NC_000001.9:g.65071264_65071265del NCBI36
NG_023402.1:g.138511_138512del
NG_023402.2:g.239753_239754del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294428.8:c.*2008_*2009del MANE Select ENSP00000294428.3:n.*2008_*2009del
ENST00000294428.7:c.*2008_*2009del ENSP00000294428.3:n.*2008_*2009del
ENST00000371072.8:c.*2008_*2009del ENSP00000360112.4:n.*2008_*2009del
NM_018211.3:c.*2008_*2009del NP_060681.2:n.*2008_*2009del
XM_006710738.2:c.*2008_*2009del XP_006710801.2:n.*2008_*2009del
NM_001366165.1:c.*2008_*2009del NP_001353094.1:n.*2008_*2009del
XR_946693.3:n.4427_4428del
NM_018211.4:c.*2008_*2009del NP_060681.2:n.*2008_*2009del
NM_001366165.2:c.*2008_*2009del MANE Select NP_001353094.1:n.*2008_*2009del