Canonical Allele Identifier: CA1172053934
Gene: RAVER2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833132_64833133delinsCT , CM000663.2:g.64833132_64833133delinsCT GRCh38
NC_000001.10:g.65298815_65298816delinsCT , CM000663.1:g.65298815_65298816delinsCT GRCh37
NC_000001.9:g.65071403_65071404delinsCT NCBI36
NG_023402.1:g.138372_138373delinsAG
NG_023402.2:g.239614_239615delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000294428.8:c.*2147_*2148delinsCT MANE Select ENSP00000294428.3:n.*2147_*2148delinsCT
ENST00000294428.7:c.*2147_*2148delinsCT ENSP00000294428.3:n.*2147_*2148delinsCT
ENST00000371072.8:c.*2147_*2148delinsCT ENSP00000360112.4:n.*2147_*2148delinsCT
NM_018211.3:c.*2147_*2148delinsCT NP_060681.2:n.*2147_*2148delinsCT
XM_006710738.2:c.*2147_*2148delinsCT XP_006710801.2:n.*2147_*2148delinsCT
NM_001366165.1:c.*2147_*2148delinsCT NP_001353094.1:n.*2147_*2148delinsCT
XR_946693.3:n.4566_4567delinsCT
NM_018211.4:c.*2147_*2148delinsCT NP_060681.2:n.*2147_*2148delinsCT
NM_001366165.2:c.*2147_*2148delinsCT MANE Select NP_001353094.1:n.*2147_*2148delinsCT