Canonical Allele Identifier: CA10609208
Gene: RAB3GAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 295618
dbSNP Id: rs886046013

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220149158_220149161del , CM000663.2:g.220149158_220149161del GRCh38
NC_000001.10:g.220322500_220322503del , CM000663.1:g.220322500_220322503del GRCh37
NC_000001.9:g.218389123_218389126del NCBI36
NG_015837.1:g.128349_128352del
NG_041799.1:g.60046_60049del
NG_015837.2:g.128349_128352del

Transcript Alleles

HGVS Amino-acid Change
ENST00000358951.7:c.*2098_*2101del MANE Select ENSP00000351832.2:n.*2098_*2101del
ENST00000358951.6:c.*2098_*2101del ENSP00000351832.2:n.*2098_*2101del
NM_012414.3:c.*2098_*2101del NP_036546.2:n.*2098_*2101del
NM_012414.4:c.*2098_*2101del MANE Select NP_036546.2:n.*2098_*2101del