Canonical Allele Identifier: CA5711854
Gene: RAB11FIP2 HGNC NCBI
ClinVar RCV:
RCV004267746
ClinVar Variation:
2479525
dbSNP:
569131551
gnomAD v2:
10:119805545 T / G
gnomAD v3:
10:118046034 T / G
gnomAD v4:
chr10-118046034-T-G
Joint Max Group AF 0.00018984 (SAS)
Genomes Max Group AF 0.00007282 (SAS)
Exomes Max Group AF 0.00018204 (SAS)
MyVariant.info:
GRCh38 chr10:g.118046034T>G
GRCh37 chr10:g.119805545T>G
Revel Score:
ENST00000355624 (MANE Select) 0.539
ENST00000369199 0.539
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.118046034T>G , CM000672.2:g.118046034T>G GRCh38
NC_000010.10:g.119805545T>G , CM000672.1:g.119805545T>G GRCh37
NC_000010.9:g.119795535T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000355624.8:c.130A>C MANE Select ENSP00000347839.3:p.Lys44Gln
ENST00000369199.5:c.130A>C ENSP00000358200.3:p.Lys44Gln
ENST00000355624.7:c.130A>C ENSP00000347839.3:p.Lys44Gln
ENST00000369199.4:c.130A>C ENSP00000358200.3:p.Lys44Gln
NM_014904.2:c.130A>C NP_055719.1:p.Lys44Gln
XM_005269629.2:c.130A>C XP_005269686.1:p.Lys44Gln
XM_011539511.1:c.130A>C XP_011537813.1:p.Lys44Gln
XM_011539512.1:c.130A>C XP_011537814.1:p.Lys44Gln
XM_011539513.1:c.130A>C XP_011537815.1:p.Lys44Gln
NM_001330167.1:c.130A>C NP_001317096.1:p.Lys44Gln
XM_017015926.1:c.130A>C XP_016871415.1:p.Lys44Gln
NM_014904.3:c.130A>C MANE Select NP_055719.1:p.Lys44Gln
NM_001330167.2:c.130A>C NP_001317096.1:p.Lys44Gln
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