Canonical Allele Identifier: CA1172053815
Gene: RAVER2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64832958_64832959delinsAG , CM000663.2:g.64832958_64832959delinsAG GRCh38
NC_000001.10:g.65298641_65298642delinsAG , CM000663.1:g.65298641_65298642delinsAG GRCh37
NC_000001.9:g.65071229_65071230delinsAG NCBI36
NG_023402.1:g.138546_138547delinsCT
NG_023402.2:g.239788_239789delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000294428.8:c.*1973_*1974delinsAG MANE Select ENSP00000294428.3:n.*1973_*1974delinsAG
ENST00000294428.7:c.*1973_*1974delinsAG ENSP00000294428.3:n.*1973_*1974delinsAG
ENST00000371072.8:c.*1973_*1974delinsAG ENSP00000360112.4:n.*1973_*1974delinsAG
NM_018211.3:c.*1973_*1974delinsAG NP_060681.2:n.*1973_*1974delinsAG
XM_006710738.2:c.*1973_*1974delinsAG XP_006710801.2:n.*1973_*1974delinsAG
NM_001366165.1:c.*1973_*1974delinsAG NP_001353094.1:n.*1973_*1974delinsAG
XR_946693.3:n.4392_4393delinsAG
NM_018211.4:c.*1973_*1974delinsAG NP_060681.2:n.*1973_*1974delinsAG
NM_001366165.2:c.*1973_*1974delinsAG MANE Select NP_001353094.1:n.*1973_*1974delinsAG