Canonical Allele Identifier: CA2646050272
Gene: RAVER2 HGNC NCBI

Linked Data

gnomAD v4: 1-64833019-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64833019C>A , CM000663.2:g.64833019C>A GRCh38
NC_000001.10:g.65298702C>A , CM000663.1:g.65298702C>A GRCh37
NC_000001.9:g.65071290C>A NCBI36
NG_023402.1:g.138486G>T
NG_023402.2:g.239728G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*2034C>A MANE Select ENSP00000294428.3:n.*2034C>A
ENST00000294428.7:c.*2034C>A ENSP00000294428.3:n.*2034C>A
ENST00000371072.8:c.*2034C>A ENSP00000360112.4:n.*2034C>A
NM_018211.3:c.*2034C>A NP_060681.2:n.*2034C>A
XM_006710738.2:c.*2034C>A XP_006710801.2:n.*2034C>A
NM_001366165.1:c.*2034C>A NP_001353094.1:n.*2034C>A
XR_946693.3:n.4453C>A
NM_018211.4:c.*2034C>A NP_060681.2:n.*2034C>A
NM_001366165.2:c.*2034C>A MANE Select NP_001353094.1:n.*2034C>A
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