Canonical Allele Identifier: CA150656
Gene: RAB3GAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 100789
dbSNP Id: rs587777169

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220153976G>A , CM000663.2:g.220153976G>A GRCh38
NC_000001.10:g.220327318G>A , CM000663.1:g.220327318G>A GRCh37
NC_000001.9:g.218393941G>A NCBI36
NG_015837.1:g.123526C>T
NG_015837.2:g.123526C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474966.2:n.1629C>T
ENST00000491005.6:n.4663C>T
ENST00000491305.2:n.4132C>T
ENST00000685286.1:c.*962C>T ENSP00000509457.1:n.*962C>T
ENST00000685664.1:c.3637C>T ENSP00000509121.1:p.Arg1213Ter
ENST00000686381.1:c.3373C>T ENSP00000509555.1:p.Arg1125Ter
ENST00000687065.1:c.3373C>T ENSP00000510408.1:p.Arg1125Ter
ENST00000687394.1:n.3743C>T
ENST00000687647.1:c.3373C>T ENSP00000509205.1:p.Arg1125Ter
ENST00000688035.1:n.6647C>T
ENST00000690315.1:c.3538C>T ENSP00000509834.1:p.Arg1180Ter
ENST00000690373.1:n.3976C>T
ENST00000690824.1:c.3637C>T ENSP00000510709.1:p.Arg1213Ter
ENST00000691661.1:c.3649C>T ENSP00000510185.1:p.Arg1217Ter
ENST00000691862.1:c.3535C>T ENSP00000509291.1:p.Arg1179Ter
ENST00000692813.1:c.3601C>T ENSP00000509080.1:p.Arg1201Ter
ENST00000692972.1:c.3712C>T ENSP00000510753.1:p.Arg1238Ter
ENST00000693602.1:n.6223C>T
ENST00000358951.7:c.3637C>T MANE Select ENSP00000351832.2:p.Arg1213Ter
ENST00000358951.6:c.3637C>T ENSP00000351832.2:p.Arg1213Ter
ENST00000491005.5:n.85C>T
ENST00000491305.1:n.453C>T
NM_012414.3:c.3637C>T NP_036546.2:p.Arg1213Ter
NM_012414.4:c.3637C>T MANE Select NP_036546.2:p.Arg1213Ter