Canonical Allele Identifier: CA23896462
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs753673953
gnomAD v3: 1-64832960-G-A
gnomAD v4: 1-64832960-G-A
MyVariant Identifiers: chr1:g.65298643G>A (hg19) chr1:g.64832960G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64832960G>A , CM000663.2:g.64832960G>A GRCh38
NC_000001.10:g.65298643G>A , CM000663.1:g.65298643G>A GRCh37
NC_000001.9:g.65071231G>A NCBI36
NG_023402.1:g.138545C>T
NG_023402.2:g.239787C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*1975G>A MANE Select ENSP00000294428.3:n.*1975G>A
ENST00000294428.7:c.*1975G>A ENSP00000294428.3:n.*1975G>A
ENST00000371072.8:c.*1975G>A ENSP00000360112.4:n.*1975G>A
NM_018211.3:c.*1975G>A NP_060681.2:n.*1975G>A
XM_006710738.2:c.*1975G>A XP_006710801.2:n.*1975G>A
NM_001366165.1:c.*1975G>A NP_001353094.1:n.*1975G>A
XR_946693.3:n.4394G>A
NM_018211.4:c.*1975G>A NP_060681.2:n.*1975G>A
NM_001366165.2:c.*1975G>A MANE Select NP_001353094.1:n.*1975G>A
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