Canonical Allele Identifier: CA2646050437
Gene: RAVER2 HGNC NCBI

Linked Data

gnomAD v4: 1-64833173-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833173C>G , CM000663.2:g.64833173C>G GRCh38
NC_000001.10:g.65298856C>G , CM000663.1:g.65298856C>G GRCh37
NC_000001.9:g.65071444C>G NCBI36
NG_023402.1:g.138332G>C
NG_023402.2:g.239574G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*2188C>G MANE Select ENSP00000294428.3:n.*2188C>G
ENST00000294428.7:c.*2188C>G ENSP00000294428.3:n.*2188C>G
ENST00000371072.8:c.*2188C>G ENSP00000360112.4:n.*2188C>G
NM_018211.3:c.*2188C>G NP_060681.2:n.*2188C>G
XM_006710738.2:c.*2188C>G XP_006710801.2:n.*2188C>G
NM_001366165.1:c.*2188C>G NP_001353094.1:n.*2188C>G
XR_946693.3:n.4607C>G
NM_018211.4:c.*2188C>G NP_060681.2:n.*2188C>G
NM_001366165.2:c.*2188C>G MANE Select NP_001353094.1:n.*2188C>G
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