Canonical Allele Identifier: CA1402983

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220210496G>A , CM000663.2:g.220210496G>A	GRCh38
NC_000001.10:g.220383838G>A , CM000663.1:g.220383838G>A	GRCh37
NC_000001.9:g.218450461G>A	NCBI36
NG_015837.1:g.67006C>T
NG_015837.2:g.67006C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.511-7C>T MANE Select	NP_036546.2:n.511-7C>T
ENST00000358951.7:c.511-7C>T MANE Select	ENSP00000351832.2:n.511-7C>T
NM_012414.3:c.511-7C>T	NP_036546.2:n.511-7C>T
ENST00000237724.9:n.306-7C>T
ENST00000358951.6:c.511-7C>T	ENSP00000351832.2:n.511-7C>T
ENST00000474178.1:c.*56-7C>T	ENSP00000420156.1:n.*56-7C>T
ENST00000478976.1:n.292-20071C>T
ENST00000484658.1:c.215-7C>T
ENST00000685286.1:c.511-7C>T	ENSP00000509457.1:n.511-7C>T
ENST00000685664.1:c.511-7C>T	ENSP00000509121.1:n.511-7C>T
ENST00000686381.1:c.247-7C>T	ENSP00000509555.1:n.247-7C>T
ENST00000687065.1:c.247-7C>T	ENSP00000510408.1:n.247-7C>T
ENST00000687394.1:n.617-7C>T
ENST00000687647.1:c.247-7C>T	ENSP00000509205.1:n.247-7C>T
ENST00000688035.1:n.919C>T
ENST00000688281.1:n.845C>T
ENST00000688904.1:n.1187C>T
ENST00000689820.1:c.511-7C>T	ENSP00000509387.1:n.511-7C>T
ENST00000690315.1:c.511-7C>T	ENSP00000509834.1:n.511-7C>T
ENST00000690373.1:n.843C>T
ENST00000690379.1:n.541-7C>T
ENST00000690824.1:c.511-7C>T	ENSP00000510709.1:n.511-7C>T
ENST00000691661.1:c.523-7C>T	ENSP00000510185.1:n.523-7C>T
ENST00000691862.1:c.510+305C>T	ENSP00000509291.1:n.510+305C>T
ENST00000692208.1:n.598-7C>T
ENST00000692813.1:c.511-7C>T	ENSP00000509080.1:n.511-7C>T
ENST00000692972.1:c.511-7C>T	ENSP00000510753.1:n.511-7C>T
ENST00000693602.1:n.604-7C>T