Canonical Allele Identifier: CA1402715

Gene: RAB3GAP2

Linked Data

• dbSNP Id: rs779969064
• ExAC: 1:220364531 G / A
• gnomAD v2: 1-220364531-G-A
• gnomAD v4: 1-220191189-G-A
• COSMIC: COSM1295886
• MyVariant Identifiers: chr1:g.220364531G>A (hg19) ; chr1:g.220191189G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191189G>A , CM000663.2:g.220191189G>A	GRCh38
NC_000001.10:g.220364531G>A , CM000663.1:g.220364531G>A	GRCh37
NC_000001.9:g.218431154G>A	NCBI36
NG_015837.1:g.86313C>T
NG_015837.2:g.86313C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1366C>T	ENSP00000509457.1:p.Gln456Ter
ENST00000685664.1:c.1366C>T	ENSP00000509121.1:p.Gln456Ter
ENST00000686381.1:c.1102C>T	ENSP00000509555.1:p.Gln368Ter
ENST00000687065.1:c.1102C>T	ENSP00000510408.1:p.Gln368Ter
ENST00000687394.1:n.1472C>T
ENST00000687647.1:c.1102C>T	ENSP00000509205.1:p.Gln368Ter
ENST00000688035.1:n.1781C>T
ENST00000690315.1:c.1267C>T	ENSP00000509834.1:p.Gln423Ter
ENST00000690373.1:n.1705C>T
ENST00000690379.1:n.1396C>T
ENST00000690824.1:c.1366C>T	ENSP00000510709.1:p.Gln456Ter
ENST00000691661.1:c.1378C>T	ENSP00000510185.1:p.Gln460Ter
ENST00000691862.1:c.1264C>T	ENSP00000509291.1:p.Gln422Ter
ENST00000692813.1:c.1366C>T	ENSP00000509080.1:p.Gln456Ter
ENST00000692972.1:c.1441C>T	ENSP00000510753.1:p.Gln481Ter
ENST00000693454.1:n.576C>T
ENST00000693602.1:n.1459C>T
ENST00000358951.7:c.1366C>T MANE Select	ENSP00000351832.2:p.Gln456Ter
ENST00000358951.6:c.1366C>T	ENSP00000351832.2:p.Gln456Ter
ENST00000478976.1:n.292-764C>T
NM_012414.3:c.1366C>T	NP_036546.2:p.Gln456Ter
NM_012414.4:c.1366C>T MANE Select	NP_036546.2:p.Gln456Ter