Canonical Allele Identifier: CA1002570263
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs1654232075
gnomAD v3: 1-64833206-T-TAATA
gnomAD v4: 1-64833206-T-TAATA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833207_64833210dup , CM000663.2:g.64833207_64833210dup GRCh38
NC_000001.10:g.65298890_65298893dup , CM000663.1:g.65298890_65298893dup GRCh37
NC_000001.9:g.65071478_65071481dup NCBI36
NG_023402.1:g.138295_138298dup
NG_023402.2:g.239537_239540dup

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*2222_*2225dup MANE Select ENSP00000294428.3:n.*2222_*2225dup
ENST00000294428.7:c.*2222_*2225dup ENSP00000294428.3:n.*2222_*2225dup
ENST00000371072.8:c.*2222_*2225dup ENSP00000360112.4:n.*2222_*2225dup
NM_018211.3:c.*2222_*2225dup NP_060681.2:n.*2222_*2225dup
XM_006710738.2:c.*2222_*2225dup XP_006710801.2:n.*2222_*2225dup
NM_001366165.1:c.*2222_*2225dup NP_001353094.1:n.*2222_*2225dup
XR_946693.3:n.4641_4644dup
NM_018211.4:c.*2222_*2225dup NP_060681.2:n.*2222_*2225dup
NM_001366165.2:c.*2222_*2225dup MANE Select NP_001353094.1:n.*2222_*2225dup
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