Canonical Allele Identifier: CA2646050458
Gene: RAVER2 HGNC NCBI

Linked Data

gnomAD v4: 1-64833191-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833191T>C , CM000663.2:g.64833191T>C GRCh38
NC_000001.10:g.65298874T>C , CM000663.1:g.65298874T>C GRCh37
NC_000001.9:g.65071462T>C NCBI36
NG_023402.1:g.138314A>G
NG_023402.2:g.239556A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*2206T>C MANE Select ENSP00000294428.3:n.*2206T>C
ENST00000294428.7:c.*2206T>C ENSP00000294428.3:n.*2206T>C
ENST00000371072.8:c.*2206T>C ENSP00000360112.4:n.*2206T>C
NM_018211.3:c.*2206T>C NP_060681.2:n.*2206T>C
XM_006710738.2:c.*2206T>C XP_006710801.2:n.*2206T>C
NM_001366165.1:c.*2206T>C NP_001353094.1:n.*2206T>C
XR_946693.3:n.4625T>C
NM_018211.4:c.*2206T>C NP_060681.2:n.*2206T>C
NM_001366165.2:c.*2206T>C MANE Select NP_001353094.1:n.*2206T>C
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