Canonical Allele Identifier: CA10609307
Gene: RAB3GAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 295622
ClinVar RCV Id: RCV000322366 RCV000379343
dbSNP Id: rs555263194
gnomAD v2: 1-220323123-C-T
gnomAD v3: 1-220149781-C-T
gnomAD v4: 1-220149781-C-T
MyVariant Identifiers: chr1:g.220323123C>T (hg19) chr1:g.220149781C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220149781C>T , CM000663.2:g.220149781C>T GRCh38
NC_000001.10:g.220323123C>T , CM000663.1:g.220323123C>T GRCh37
NC_000001.9:g.218389746C>T NCBI36
NG_015837.1:g.127721G>A
NG_041799.1:g.60669C>T
NG_015837.2:g.127721G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000358951.7:c.*1470G>A MANE Select ENSP00000351832.2:n.*1470G>A
ENST00000358951.6:c.*1470G>A ENSP00000351832.2:n.*1470G>A
NM_012414.3:c.*1470G>A NP_036546.2:n.*1470G>A
NM_012414.4:c.*1470G>A MANE Select NP_036546.2:n.*1470G>A
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