Canonical Allele Identifier: CA344643224

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220184035C>T , CM000663.2:g.220184035C>T	GRCh38
NC_000001.10:g.220357377C>T , CM000663.1:g.220357377C>T	GRCh37
NC_000001.9:g.218424000C>T	NCBI36
NG_015837.1:g.93467G>A
NG_015837.2:g.93467G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.1998+1G>A MANE Select	NP_036546.2:n.1998+1G>A
ENST00000358951.7:c.1998+1G>A MANE Select	ENSP00000351832.2:n.1998+1G>A
NM_012414.3:c.1998+1G>A	NP_036546.2:n.1998+1G>A
ENST00000358951.6:c.1998+1G>A	ENSP00000351832.2:n.1998+1G>A
ENST00000685286.1:c.1998+1G>A	ENSP00000509457.1:n.1998+1G>A
ENST00000685664.1:c.1998+1G>A	ENSP00000509121.1:n.1998+1G>A
ENST00000686381.1:c.1734+1G>A	ENSP00000509555.1:n.1734+1G>A
ENST00000687065.1:c.1734+1G>A	ENSP00000510408.1:n.1734+1G>A
ENST00000687394.1:n.2104+1G>A
ENST00000687647.1:c.1734+1G>A	ENSP00000509205.1:n.1734+1G>A
ENST00000688035.1:n.2413+1G>A
ENST00000690315.1:c.1899+1G>A	ENSP00000509834.1:n.1899+1G>A
ENST00000690373.1:n.2337+1G>A
ENST00000690824.1:c.1998+1G>A	ENSP00000510709.1:n.1998+1G>A
ENST00000691661.1:c.2010+1G>A	ENSP00000510185.1:n.2010+1G>A
ENST00000691862.1:c.1896+1G>A	ENSP00000509291.1:n.1896+1G>A
ENST00000692813.1:c.1998+1G>A	ENSP00000509080.1:n.1998+1G>A
ENST00000692972.1:c.2073+1G>A	ENSP00000510753.1:n.2073+1G>A
ENST00000693454.1:n.1208+1G>A
ENST00000693602.1:n.2091+1G>A