Canonical Allele Identifier: CA344633769

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220164733C>T , CM000663.2:g.220164733C>T	GRCh38
NC_000001.10:g.220338075C>T , CM000663.1:g.220338075C>T	GRCh37
NC_000001.9:g.218404698C>T	NCBI36
NG_015837.1:g.112769G>A
NG_015837.2:g.112769G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.3154G>A MANE Select	NP_036546.2:p.Gly1052Ser
ENST00000358951.7:c.3154G>A MANE Select	ENSP00000351832.2:p.Gly1052Ser
NM_012414.3:c.3154G>A	NP_036546.2:p.Gly1052Ser
ENST00000358951.6:c.3154G>A	ENSP00000351832.2:p.Gly1052Ser
ENST00000685286.1:c.*479G>A	ENSP00000509457.1:n.*479G>A
ENST00000685664.1:c.3154G>A	ENSP00000509121.1:p.Gly1052Ser
ENST00000686381.1:c.2890G>A	ENSP00000509555.1:p.Gly964Ser
ENST00000687065.1:c.2890G>A	ENSP00000510408.1:p.Gly964Ser
ENST00000687394.1:n.3260G>A
ENST00000687647.1:c.2890G>A	ENSP00000509205.1:p.Gly964Ser
ENST00000688035.1:n.6164G>A
ENST00000690315.1:c.3055G>A	ENSP00000509834.1:p.Gly1019Ser
ENST00000690373.1:n.3493G>A
ENST00000690824.1:c.3154G>A	ENSP00000510709.1:p.Gly1052Ser
ENST00000691661.1:c.3166G>A	ENSP00000510185.1:p.Gly1056Ser
ENST00000691862.1:c.3052G>A	ENSP00000509291.1:p.Gly1018Ser
ENST00000692813.1:c.3154G>A	ENSP00000509080.1:p.Gly1052Ser
ENST00000692972.1:c.3229G>A	ENSP00000510753.1:p.Gly1077Ser
ENST00000693602.1:n.5740G>A