Canonical Allele Identifier: CA344645609

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 2247713
• ClinVar RCV Id: RCV002752184
• dbSNP Id: rs1658612715
• gnomAD v4: 1-220191210-A-T
• MyVariant Identifiers: chr1:g.220364552A>T (hg19) ; chr1:g.220191210A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191210A>T , CM000663.2:g.220191210A>T	GRCh38
NC_000001.10:g.220364552A>T , CM000663.1:g.220364552A>T	GRCh37
NC_000001.9:g.218431175A>T	NCBI36
NG_015837.1:g.86292T>A
NG_015837.2:g.86292T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1345T>A	ENSP00000509457.1:p.Phe449Ile
ENST00000685664.1:c.1345T>A	ENSP00000509121.1:p.Phe449Ile
ENST00000686381.1:c.1081T>A	ENSP00000509555.1:p.Phe361Ile
ENST00000687065.1:c.1081T>A	ENSP00000510408.1:p.Phe361Ile
ENST00000687394.1:n.1451T>A
ENST00000687647.1:c.1081T>A	ENSP00000509205.1:p.Phe361Ile
ENST00000688035.1:n.1760T>A
ENST00000690315.1:c.1246T>A	ENSP00000509834.1:p.Phe416Ile
ENST00000690373.1:n.1684T>A
ENST00000690379.1:n.1375T>A
ENST00000690824.1:c.1345T>A	ENSP00000510709.1:p.Phe449Ile
ENST00000691661.1:c.1357T>A	ENSP00000510185.1:p.Phe453Ile
ENST00000691862.1:c.1243T>A	ENSP00000509291.1:p.Phe415Ile
ENST00000692813.1:c.1345T>A	ENSP00000509080.1:p.Phe449Ile
ENST00000692972.1:c.1420T>A	ENSP00000510753.1:p.Phe474Ile
ENST00000693454.1:n.555T>A
ENST00000693602.1:n.1438T>A
ENST00000358951.7:c.1345T>A MANE Select	ENSP00000351832.2:p.Phe449Ile
ENST00000358951.6:c.1345T>A	ENSP00000351832.2:p.Phe449Ile
ENST00000478976.1:n.292-785T>A
NM_012414.3:c.1345T>A	NP_036546.2:p.Phe449Ile
NM_012414.4:c.1345T>A MANE Select	NP_036546.2:p.Phe449Ile