Canonical Allele Identifier: CA523583497
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs1280963861
gnomAD v2: 1-65298593-A-AGAT
gnomAD v3: 1-64832910-A-AGAT
gnomAD v4: 1-64832910-A-AGAT
MyVariant Identifiers: chr1:g.65298593_65298594insGAT (hg19) chr1:g.64832910_64832911insGAT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64832912_64832914dup , CM000663.2:g.64832912_64832914dup GRCh38
NC_000001.10:g.65298595_65298597dup , CM000663.1:g.65298595_65298597dup GRCh37
NC_000001.9:g.65071183_65071185dup NCBI36
NG_023402.1:g.138592_138594dup
NG_023402.2:g.239834_239836dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000294428.8:c.*1927_*1929dup MANE Select ENSP00000294428.3:n.*1927_*1929dup
ENST00000294428.7:c.*1927_*1929dup ENSP00000294428.3:n.*1927_*1929dup
ENST00000371072.8:c.*1927_*1929dup ENSP00000360112.4:n.*1927_*1929dup
NM_018211.3:c.*1927_*1929dup NP_060681.2:n.*1927_*1929dup
XM_006710738.2:c.*1927_*1929dup XP_006710801.2:n.*1927_*1929dup
NM_001366165.1:c.*1927_*1929dup NP_001353094.1:n.*1927_*1929dup
XR_946693.3:n.4346_4348dup
NM_018211.4:c.*1927_*1929dup NP_060681.2:n.*1927_*1929dup
NM_001366165.2:c.*1927_*1929dup MANE Select NP_001353094.1:n.*1927_*1929dup
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