Canonical Allele Identifier: CA1002570046
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs1654206654

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64832940_64832943del , CM000663.2:g.64832940_64832943del GRCh38
NC_000001.10:g.65298623_65298626del , CM000663.1:g.65298623_65298626del GRCh37
NC_000001.9:g.65071211_65071214del NCBI36
NG_023402.1:g.138562_138565del
NG_023402.2:g.239804_239807del

Transcript Alleles

HGVS Amino-acid Change
ENST00000294428.8:c.*1955_*1958del MANE Select ENSP00000294428.3:n.*1955_*1958del
ENST00000294428.7:c.*1955_*1958del ENSP00000294428.3:n.*1955_*1958del
ENST00000371072.8:c.*1955_*1958del ENSP00000360112.4:n.*1955_*1958del
NM_018211.3:c.*1955_*1958del NP_060681.2:n.*1955_*1958del
XM_006710738.2:c.*1955_*1958del XP_006710801.2:n.*1955_*1958del
NM_001366165.1:c.*1955_*1958del NP_001353094.1:n.*1955_*1958del
XR_946693.3:n.4374_4377del
NM_018211.4:c.*1955_*1958del NP_060681.2:n.*1955_*1958del
NM_001366165.2:c.*1955_*1958del MANE Select NP_001353094.1:n.*1955_*1958del