Canonical Allele Identifier: CA2646050422
Gene: RAVER2 HGNC NCBI

Linked Data

gnomAD v4: 1-64833152-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833152A>T , CM000663.2:g.64833152A>T GRCh38
NC_000001.10:g.65298835A>T , CM000663.1:g.65298835A>T GRCh37
NC_000001.9:g.65071423A>T NCBI36
NG_023402.1:g.138353T>A
NG_023402.2:g.239595T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*2167A>T MANE Select ENSP00000294428.3:n.*2167A>T
ENST00000294428.7:c.*2167A>T ENSP00000294428.3:n.*2167A>T
ENST00000371072.8:c.*2167A>T ENSP00000360112.4:n.*2167A>T
NM_018211.3:c.*2167A>T NP_060681.2:n.*2167A>T
XM_006710738.2:c.*2167A>T XP_006710801.2:n.*2167A>T
NM_001366165.1:c.*2167A>T NP_001353094.1:n.*2167A>T
XR_946693.3:n.4586A>T
NM_018211.4:c.*2167A>T NP_060681.2:n.*2167A>T
NM_001366165.2:c.*2167A>T MANE Select NP_001353094.1:n.*2167A>T