Canonical Allele Identifier: CA10610149

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 295627
• ClinVar RCV Id: RCV000295570 ; RCV000407502
• dbSNP Id: rs11316594
• gnomAD v2: 1-220323448-CT-C
• gnomAD v3: 1-220150106-CT-C
• gnomAD v4: 1-220150106-CT-C
• COSMIC: COSN20096027 ; COSN20096028
• MyVariant Identifiers: chr1:g.220323456del (hg19) ; chr1:g.220323452del (hg19) ; chr1:g.220323449del (hg19) ; chr1:g.220150114del (hg38) ; chr1:g.220150107del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220150122del , CM000663.2:g.220150122del	GRCh38
NC_000001.10:g.220323464del , CM000663.1:g.220323464del	GRCh37
NC_000001.9:g.218390087del	NCBI36
NG_015837.1:g.127395del
NG_015837.2:g.127395del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358951.7:c.*1144del MANE Select	ENSP00000351832.2:n.*1144del
ENST00000358951.6:c.*1144del	ENSP00000351832.2:n.*1144del
NM_012414.3:c.*1144del	NP_036546.2:n.*1144del
NM_012414.4:c.*1144del MANE Select	NP_036546.2:n.*1144del