Canonical Allele Identifier: CA1402934

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220205925G>A , CM000663.2:g.220205925G>A	GRCh38
NC_000001.10:g.220379267G>A , CM000663.1:g.220379267G>A	GRCh37
NC_000001.9:g.218445890G>A	NCBI36
NG_015837.1:g.71577C>T
NG_015837.2:g.71577C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.694C>T MANE Select	NP_036546.2:p.Arg232Ter
ENST00000358951.7:c.694C>T MANE Select	ENSP00000351832.2:p.Arg232Ter
NM_012414.3:c.694C>T	NP_036546.2:p.Arg232Ter
ENST00000237724.9:n.489C>T
ENST00000358951.6:c.694C>T	ENSP00000351832.2:p.Arg232Ter
ENST00000474178.1:c.*239C>T	ENSP00000420156.1:n.*239C>T
ENST00000478976.1:n.292-15500C>T
ENST00000484658.1:c.398C>T
ENST00000685286.1:c.694C>T	ENSP00000509457.1:p.Arg232Ter
ENST00000685664.1:c.694C>T	ENSP00000509121.1:p.Arg232Ter
ENST00000686381.1:c.430C>T	ENSP00000509555.1:p.Arg144Ter
ENST00000687065.1:c.430C>T	ENSP00000510408.1:p.Arg144Ter
ENST00000687394.1:n.800C>T
ENST00000687647.1:c.430C>T	ENSP00000509205.1:p.Arg144Ter
ENST00000688035.1:n.1109C>T
ENST00000689820.1:c.694C>T	ENSP00000509387.1:p.Arg232Ter
ENST00000690315.1:c.694C>T	ENSP00000509834.1:p.Arg232Ter
ENST00000690373.1:n.1033C>T
ENST00000690379.1:n.724C>T
ENST00000690824.1:c.694C>T	ENSP00000510709.1:p.Arg232Ter
ENST00000691661.1:c.706C>T	ENSP00000510185.1:p.Arg236Ter
ENST00000691862.1:c.592C>T	ENSP00000509291.1:p.Arg198Ter
ENST00000692813.1:c.694C>T	ENSP00000509080.1:p.Arg232Ter
ENST00000692972.1:c.694C>T	ENSP00000510753.1:p.Arg232Ter
ENST00000693602.1:n.787C>T