Canonical Allele Identifier: CA344646798

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220195297C>A , CM000663.2:g.220195297C>A	GRCh38
NC_000001.10:g.220368639C>A , CM000663.1:g.220368639C>A	GRCh37
NC_000001.9:g.218435262C>A	NCBI36
NG_015837.1:g.82205G>T
NG_015837.2:g.82205G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.1040+1G>T MANE Select	NP_036546.2:n.1040+1G>T
ENST00000358951.7:c.1040+1G>T MANE Select	ENSP00000351832.2:n.1040+1G>T
NM_012414.3:c.1040+1G>T	NP_036546.2:n.1040+1G>T
ENST00000358951.6:c.1040+1G>T	ENSP00000351832.2:n.1040+1G>T
ENST00000478976.1:n.292-4872G>T
ENST00000685286.1:c.1040+1G>T	ENSP00000509457.1:n.1040+1G>T
ENST00000685664.1:c.1040+1G>T	ENSP00000509121.1:n.1040+1G>T
ENST00000686381.1:c.776+1G>T	ENSP00000509555.1:n.776+1G>T
ENST00000687065.1:c.776+1G>T	ENSP00000510408.1:n.776+1G>T
ENST00000687394.1:n.1146+1G>T
ENST00000687647.1:c.776+1G>T	ENSP00000509205.1:n.776+1G>T
ENST00000688035.1:n.1455+1G>T
ENST00000690315.1:c.941+1G>T	ENSP00000509834.1:n.941+1G>T
ENST00000690373.1:n.1379+1G>T
ENST00000690379.1:n.1070+1G>T
ENST00000690824.1:c.1040+1G>T	ENSP00000510709.1:n.1040+1G>T
ENST00000691661.1:c.1052+1G>T	ENSP00000510185.1:n.1052+1G>T
ENST00000691862.1:c.938+1G>T	ENSP00000509291.1:n.938+1G>T
ENST00000692813.1:c.1040+1G>T	ENSP00000509080.1:n.1040+1G>T
ENST00000692972.1:c.1115+1G>T	ENSP00000510753.1:n.1115+1G>T
ENST00000693454.1:n.250+1G>T
ENST00000693602.1:n.1133+1G>T