Canonical Allele Identifier: CA344734731

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220272307A>G , CM000663.2:g.220272307A>G	GRCh38
NC_000001.10:g.220445649A>G , CM000663.1:g.220445649A>G	GRCh37
NC_000001.9:g.218512272A>G	NCBI36
NG_015837.1:g.5195T>C
NG_015837.2:g.5195T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.31T>C MANE Select	NP_036546.2:p.Phe11Leu
ENST00000358951.7:c.31T>C MANE Select	ENSP00000351832.2:p.Phe11Leu
NM_012414.3:c.31T>C	NP_036546.2:p.Phe11Leu
ENST00000237724.9:n.108T>C
ENST00000358951.6:c.31T>C	ENSP00000351832.2:p.Phe11Leu
ENST00000462353.1:n.55T>C
ENST00000474178.1:c.31T>C	ENSP00000420156.1:p.Phe11Leu
ENST00000475769.1:n.31T>C
ENST00000478976.1:n.124T>C
ENST00000684982.1:n.83T>C
ENST00000685286.1:c.31T>C	ENSP00000509457.1:p.Phe11Leu
ENST00000685664.1:c.31T>C	ENSP00000509121.1:p.Phe11Leu
ENST00000686381.1:c.-228-6T>C	ENSP00000509555.1:n.-228-6T>C
ENST00000687065.1:c.-228-6T>C	ENSP00000510408.1:n.-228-6T>C
ENST00000687394.1:n.137T>C
ENST00000687647.1:c.-150+49T>C	ENSP00000509205.1:n.-150+49T>C
ENST00000688035.1:n.57T>C
ENST00000688281.1:n.61T>C
ENST00000689820.1:c.31T>C	ENSP00000509387.1:p.Phe11Leu
ENST00000690315.1:c.31T>C	ENSP00000509834.1:p.Phe11Leu
ENST00000690373.1:n.59T>C
ENST00000690379.1:n.61T>C
ENST00000690824.1:c.31T>C	ENSP00000510709.1:p.Phe11Leu
ENST00000691661.1:c.31T>C	ENSP00000510185.1:p.Phe11Leu
ENST00000691862.1:c.31T>C	ENSP00000509291.1:p.Phe11Leu
ENST00000692208.1:n.118T>C
ENST00000692813.1:c.31T>C	ENSP00000509080.1:p.Phe11Leu
ENST00000692972.1:c.31T>C	ENSP00000510753.1:p.Phe11Leu
ENST00000693602.1:n.124T>C