Canonical Allele Identifier: CA1402472

Gene: RAB3GAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220182285G>A , CM000663.2:g.220182285G>A	GRCh38
NC_000001.10:g.220355627G>A , CM000663.1:g.220355627G>A	GRCh37
NC_000001.9:g.218422250G>A	NCBI36
NG_015837.1:g.95217C>T
NG_015837.2:g.95217C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_012414.4:c.2282C>T MANE Select	NP_036546.2:p.Ser761Leu
ENST00000358951.7:c.2282C>T MANE Select	ENSP00000351832.2:p.Ser761Leu
NM_012414.3:c.2282C>T	NP_036546.2:p.Ser761Leu
ENST00000358951.6:c.2282C>T	ENSP00000351832.2:p.Ser761Leu
ENST00000685286.1:c.2282C>T	ENSP00000509457.1:p.Ser761Leu
ENST00000685664.1:c.2282C>T	ENSP00000509121.1:p.Ser761Leu
ENST00000686381.1:c.2018C>T	ENSP00000509555.1:p.Ser673Leu
ENST00000687065.1:c.2018C>T	ENSP00000510408.1:p.Ser673Leu
ENST00000687394.1:n.2388C>T
ENST00000687647.1:c.2018C>T	ENSP00000509205.1:p.Ser673Leu
ENST00000688035.1:n.2697C>T
ENST00000690315.1:c.2183C>T	ENSP00000509834.1:p.Ser728Leu
ENST00000690373.1:n.2621C>T
ENST00000690824.1:c.2282C>T	ENSP00000510709.1:p.Ser761Leu
ENST00000691661.1:c.2294C>T	ENSP00000510185.1:p.Ser765Leu
ENST00000691862.1:c.2180C>T	ENSP00000509291.1:p.Ser727Leu
ENST00000692813.1:c.2282C>T	ENSP00000509080.1:p.Ser761Leu
ENST00000692972.1:c.2357C>T	ENSP00000510753.1:p.Ser786Leu
ENST00000693454.1:n.1492C>T
ENST00000693602.1:n.2375C>T