Canonical Allele Identifier: CA344645551

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 844021
• ClinVar RCV Id: RCV001046764
• dbSNP Id: rs1468198640
• gnomAD v4: 1-220191182-G-T
• MyVariant Identifiers: chr1:g.220364524G>T (hg19) ; chr1:g.220191182G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191182G>T , CM000663.2:g.220191182G>T	GRCh38
NC_000001.10:g.220364524G>T , CM000663.1:g.220364524G>T	GRCh37
NC_000001.9:g.218431147G>T	NCBI36
NG_015837.1:g.86320C>A
NG_015837.2:g.86320C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1373C>A	ENSP00000509457.1:p.Pro458Gln
ENST00000685664.1:c.1373C>A	ENSP00000509121.1:p.Pro458Gln
ENST00000686381.1:c.1109C>A	ENSP00000509555.1:p.Pro370Gln
ENST00000687065.1:c.1109C>A	ENSP00000510408.1:p.Pro370Gln
ENST00000687394.1:n.1479C>A
ENST00000687647.1:c.1109C>A	ENSP00000509205.1:p.Pro370Gln
ENST00000688035.1:n.1788C>A
ENST00000690315.1:c.1274C>A	ENSP00000509834.1:p.Pro425Gln
ENST00000690373.1:n.1712C>A
ENST00000690379.1:n.1403C>A
ENST00000690824.1:c.1373C>A	ENSP00000510709.1:p.Pro458Gln
ENST00000691661.1:c.1385C>A	ENSP00000510185.1:p.Pro462Gln
ENST00000691862.1:c.1271C>A	ENSP00000509291.1:p.Pro424Gln
ENST00000692813.1:c.1373C>A	ENSP00000509080.1:p.Pro458Gln
ENST00000692972.1:c.1448C>A	ENSP00000510753.1:p.Pro483Gln
ENST00000693454.1:n.583C>A
ENST00000693602.1:n.1466C>A
ENST00000358951.7:c.1373C>A MANE Select	ENSP00000351832.2:p.Pro458Gln
ENST00000358951.6:c.1373C>A	ENSP00000351832.2:p.Pro458Gln
ENST00000478976.1:n.292-757C>A
NM_012414.3:c.1373C>A	NP_036546.2:p.Pro458Gln
NM_012414.4:c.1373C>A MANE Select	NP_036546.2:p.Pro458Gln