Canonical Allele Identifier: CA10610096

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 295606
• ClinVar RCV Id: RCV000283478 ; RCV000340812
• dbSNP Id: rs886046009
• gnomAD v2: 1-220322043-C-G
• gnomAD v3: 1-220148701-C-G
• gnomAD v4: 1-220148701-C-G
• MyVariant Identifiers: chr1:g.220322043C>G (hg19) ; chr1:g.220148701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220148701C>G , CM000663.2:g.220148701C>G	GRCh38
NC_000001.10:g.220322043C>G , CM000663.1:g.220322043C>G	GRCh37
NC_000001.9:g.218388666C>G	NCBI36
NG_015837.1:g.128801G>C
NG_041799.1:g.59589C>G
NG_015837.2:g.128801G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358951.7:c.*2550G>C MANE Select	ENSP00000351832.2:n.*2550G>C
ENST00000358951.6:c.*2550G>C	ENSP00000351832.2:n.*2550G>C
NM_012414.3:c.*2550G>C	NP_036546.2:n.*2550G>C
NM_012414.4:c.*2550G>C MANE Select	NP_036546.2:n.*2550G>C