Canonical Allele Identifier: CA523583536
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs1212772372
gnomAD v2: 1-65298807-A-G
gnomAD v3: 1-64833124-A-G
gnomAD v4: 1-64833124-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833124A>G , CM000663.2:g.64833124A>G GRCh38
NC_000001.10:g.65298807A>G , CM000663.1:g.65298807A>G GRCh37
NC_000001.9:g.65071395A>G NCBI36
NG_023402.1:g.138381T>C
NG_023402.2:g.239623T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*2139A>G MANE Select ENSP00000294428.3:n.*2139A>G
ENST00000294428.7:c.*2139A>G ENSP00000294428.3:n.*2139A>G
ENST00000371072.8:c.*2139A>G ENSP00000360112.4:n.*2139A>G
NM_018211.3:c.*2139A>G NP_060681.2:n.*2139A>G
XM_006710738.2:c.*2139A>G XP_006710801.2:n.*2139A>G
NM_001366165.1:c.*2139A>G NP_001353094.1:n.*2139A>G
XR_946693.3:n.4558A>G
NM_018211.4:c.*2139A>G NP_060681.2:n.*2139A>G
NM_001366165.2:c.*2139A>G MANE Select NP_001353094.1:n.*2139A>G