Canonical Allele Identifier: CA1402168

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220157844A>G , CM000663.2:g.220157844A>G	GRCh38
NC_000001.10:g.220331186A>G , CM000663.1:g.220331186A>G	GRCh37
NC_000001.9:g.218397809A>G	NCBI36
NG_015837.1:g.119658T>C
NG_015837.2:g.119658T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.3294T>C MANE Select	NP_036546.2:p.Ser1098=
ENST00000358951.7:c.3294T>C MANE Select	ENSP00000351832.2:p.Ser1098=
NM_012414.3:c.3294T>C	NP_036546.2:p.Ser1098=
ENST00000358951.6:c.3294T>C	ENSP00000351832.2:p.Ser1098=
ENST00000474966.2:n.1286T>C
ENST00000491005.6:n.1108T>C
ENST00000491305.2:n.577T>C
ENST00000685286.1:c.*619T>C	ENSP00000509457.1:n.*619T>C
ENST00000685664.1:c.3294T>C	ENSP00000509121.1:p.Ser1098=
ENST00000686381.1:c.3030T>C	ENSP00000509555.1:p.Ser1010=
ENST00000687065.1:c.3030T>C	ENSP00000510408.1:p.Ser1010=
ENST00000687394.1:n.3400T>C
ENST00000687647.1:c.3030T>C	ENSP00000509205.1:p.Ser1010=
ENST00000688035.1:n.6304T>C
ENST00000690315.1:c.3195T>C	ENSP00000509834.1:p.Ser1065=
ENST00000690373.1:n.3633T>C
ENST00000690824.1:c.3294T>C	ENSP00000510709.1:p.Ser1098=
ENST00000691661.1:c.3306T>C	ENSP00000510185.1:p.Ser1102=
ENST00000691862.1:c.3192T>C	ENSP00000509291.1:p.Ser1064=
ENST00000692813.1:c.3258T>C	ENSP00000509080.1:p.Ser1086=
ENST00000692972.1:c.3369T>C	ENSP00000510753.1:p.Ser1123=
ENST00000693602.1:n.5880T>C