Canonical Allele Identifier: CA1002570055
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs1654207135
gnomAD v3: 1-64832941-A-AGTC
gnomAD v4: 1-64832941-A-AGTC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64832942_64832944dup , CM000663.2:g.64832942_64832944dup GRCh38
NC_000001.10:g.65298625_65298627dup , CM000663.1:g.65298625_65298627dup GRCh37
NC_000001.9:g.65071213_65071215dup NCBI36
NG_023402.1:g.138561_138563dup
NG_023402.2:g.239803_239805dup

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*1957_*1959dup MANE Select ENSP00000294428.3:n.*1957_*1959dup
ENST00000294428.7:c.*1957_*1959dup ENSP00000294428.3:n.*1957_*1959dup
ENST00000371072.8:c.*1957_*1959dup ENSP00000360112.4:n.*1957_*1959dup
NM_018211.3:c.*1957_*1959dup NP_060681.2:n.*1957_*1959dup
XM_006710738.2:c.*1957_*1959dup XP_006710801.2:n.*1957_*1959dup
NM_001366165.1:c.*1957_*1959dup NP_001353094.1:n.*1957_*1959dup
XR_946693.3:n.4376_4378dup
NM_018211.4:c.*1957_*1959dup NP_060681.2:n.*1957_*1959dup
NM_001366165.2:c.*1957_*1959dup MANE Select NP_001353094.1:n.*1957_*1959dup
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