Canonical Allele Identifier: CA2574136153

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 2415504
• ClinVar RCV Id: RCV003104716
• gnomAD v4: 1-220191206-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191211dup , CM000663.2:g.220191211dup	GRCh38
NC_000001.10:g.220364553dup , CM000663.1:g.220364553dup	GRCh37
NC_000001.9:g.218431176dup	NCBI36
NG_015837.1:g.86295dup
NG_015837.2:g.86295dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1348dup	ENSP00000509457.1:p.Ser450PhefsTer?
ENST00000685664.1:c.1348dup	ENSP00000509121.1:p.Ser450PhefsTer?
ENST00000686381.1:c.1084dup	ENSP00000509555.1:p.Ser362PhefsTer?
ENST00000687065.1:c.1084dup	ENSP00000510408.1:p.Ser362PhefsTer?
ENST00000687394.1:n.1454dup
ENST00000687647.1:c.1084dup	ENSP00000509205.1:p.Ser362PhefsTer?
ENST00000688035.1:n.1763dup
ENST00000690315.1:c.1249dup	ENSP00000509834.1:p.Ser417PhefsTer?
ENST00000690373.1:n.1687dup
ENST00000690379.1:n.1378dup
ENST00000690824.1:c.1348dup	ENSP00000510709.1:p.Ser450PhefsTer?
ENST00000691661.1:c.1360dup	ENSP00000510185.1:p.Ser454PhefsTer?
ENST00000691862.1:c.1246dup	ENSP00000509291.1:p.Ser416PhefsTer?
ENST00000692813.1:c.1348dup	ENSP00000509080.1:p.Ser450PhefsTer?
ENST00000692972.1:c.1423dup	ENSP00000510753.1:p.Ser475PhefsTer?
ENST00000693454.1:n.558dup
ENST00000693602.1:n.1441dup
ENST00000358951.7:c.1348dup MANE Select	ENSP00000351832.2:p.Ser450PhefsTer?
ENST00000358951.6:c.1348dup	ENSP00000351832.2:p.Ser450PhefsTer?
ENST00000478976.1:n.292-782dup
NM_012414.3:c.1348dup	NP_036546.2:p.Ser450PhefsTer?
NM_012414.4:c.1348dup MANE Select	NP_036546.2:p.Ser450PhefsTer?