Canonical Allele Identifier: CA23896471
Gene: RAVER2 HGNC NCBI

Linked Data

dbSNP Id: rs935141345
gnomAD v2: 1-65298655-G-C
gnomAD v3: 1-64832972-G-C
gnomAD v4: 1-64832972-G-C
MyVariant Identifiers: chr1:g.65298655G>C (hg19) chr1:g.64832972G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.64832972G>C , CM000663.2:g.64832972G>C GRCh38
NC_000001.10:g.65298655G>C , CM000663.1:g.65298655G>C GRCh37
NC_000001.9:g.65071243G>C NCBI36
NG_023402.1:g.138533C>G
NG_023402.2:g.239775C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000294428.8:c.*1987G>C MANE Select ENSP00000294428.3:n.*1987G>C
ENST00000294428.7:c.*1987G>C ENSP00000294428.3:n.*1987G>C
ENST00000371072.8:c.*1987G>C ENSP00000360112.4:n.*1987G>C
NM_018211.3:c.*1987G>C NP_060681.2:n.*1987G>C
XM_006710738.2:c.*1987G>C XP_006710801.2:n.*1987G>C
NM_001366165.1:c.*1987G>C NP_001353094.1:n.*1987G>C
XR_946693.3:n.4406G>C
NM_018211.4:c.*1987G>C NP_060681.2:n.*1987G>C
NM_001366165.2:c.*1987G>C MANE Select NP_001353094.1:n.*1987G>C
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