Canonical Allele Identifier: CA11346202
Gene: RAB17 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.237590801C>T
GRCh37 chr2:g.238499444C>T
gnomAD v2:
2:238499444 C / T
gnomAD v3:
2:237590801 C / T
gnomAD v4:
chr2-237590801-C-T
Joint Max Group AF 0.13345779 (NFE)
Genomes Max Group AF 0.13750335 (NFE)
Exomes Max Group AF 0.03428089 (NFE)
dbSNP:
2292873
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237590801C>T , CM000664.2:g.237590801C>T GRCh38
NC_000002.11:g.238499444C>T , CM000664.1:g.238499444C>T GRCh37
NC_000002.10:g.238164183C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264601.7:c.-338G>A ENSP00000264601.3:n.-338G>A
ENST00000392001.6:c.-338G>A ENSP00000375858.2:n.-338G>A
ENST00000487008.1:n.282G>A
NM_022449.3:c.-338G>A NP_071894.1:n.-338G>A
NR_033308.1:n.326G>A
XM_006712687.1:c.-338G>A XP_006712750.1:n.-338G>A
XM_006712688.1:c.-338G>A XP_006712751.1:n.-338G>A
XM_006712689.1:c.-338G>A XP_006712752.1:n.-338G>A
XM_006712689.2:c.-338G>A XP_006712752.1:n.-338G>A
XM_017004694.2:c.-338G>A XP_016860183.1:n.-338G>A
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