Canonical Allele Identifier: CA1222311602

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191272G= , CM000663.2:g.220191272G=	GRCh38
NC_000001.10:g.220364614G= , CM000663.1:g.220364614G=	GRCh37
NC_000001.9:g.218431237G=	NCBI36
NG_015837.1:g.86230C=
NG_015837.2:g.86230C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1283C=	ENSP00000509457.1:p.Ala428=
ENST00000685664.1:c.1283C=	ENSP00000509121.1:p.Ala428=
ENST00000686381.1:c.1019C=	ENSP00000509555.1:p.Ala340=
ENST00000687065.1:c.1019C=	ENSP00000510408.1:p.Ala340=
ENST00000687394.1:n.1389C=
ENST00000687647.1:c.1019C=	ENSP00000509205.1:p.Ala340=
ENST00000688035.1:n.1698C=
ENST00000690315.1:c.1184C=	ENSP00000509834.1:p.Ala395=
ENST00000690373.1:n.1622C=
ENST00000690379.1:n.1313C=
ENST00000690824.1:c.1283C=	ENSP00000510709.1:p.Ala428=
ENST00000691661.1:c.1295C=	ENSP00000510185.1:p.Ala432=
ENST00000691862.1:c.1181C=	ENSP00000509291.1:p.Ala394=
ENST00000692813.1:c.1283C=	ENSP00000509080.1:p.Ala428=
ENST00000692972.1:c.1358C=	ENSP00000510753.1:p.Ala453=
ENST00000693454.1:n.493C=
ENST00000693602.1:n.1376C=
ENST00000358951.7:c.1283C= MANE Select	ENSP00000351832.2:p.Ala428=
ENST00000358951.6:c.1283C=	ENSP00000351832.2:p.Ala428=
ENST00000478976.1:n.292-847C=
NM_012414.3:c.1283C=	NP_036546.2:p.Ala428=
NM_012414.4:c.1283C= MANE Select	NP_036546.2:p.Ala428=