Canonical Allele Identifier: CA1402705

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 436474
• ClinVar RCV Id: RCV000501400 ; RCV001813785 ; RCV001100652 ; RCV001100653 ; RCV003766847
• dbSNP Id: rs151225064
• ExAC: 1:220364491 G / A
• gnomAD v2: 1-220364491-G-A
• gnomAD v3: 1-220191149-G-A
• gnomAD v4: 1-220191149-G-A
• COSMIC: COSM904138
• MyVariant Identifiers: chr1:g.220364491G>A (hg19) ; chr1:g.220191149G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191149G>A , CM000663.2:g.220191149G>A	GRCh38
NC_000001.10:g.220364491G>A , CM000663.1:g.220364491G>A	GRCh37
NC_000001.9:g.218431114G>A	NCBI36
NG_015837.1:g.86353C>T
NG_015837.2:g.86353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1406C>T	ENSP00000509457.1:p.Ala469Val
ENST00000685664.1:c.1406C>T	ENSP00000509121.1:p.Ala469Val
ENST00000686381.1:c.1142C>T	ENSP00000509555.1:p.Ala381Val
ENST00000687065.1:c.1142C>T	ENSP00000510408.1:p.Ala381Val
ENST00000687394.1:n.1512C>T
ENST00000687647.1:c.1142C>T	ENSP00000509205.1:p.Ala381Val
ENST00000688035.1:n.1821C>T
ENST00000690315.1:c.1307C>T	ENSP00000509834.1:p.Ala436Val
ENST00000690373.1:n.1745C>T
ENST00000690379.1:n.1436C>T
ENST00000690824.1:c.1406C>T	ENSP00000510709.1:p.Ala469Val
ENST00000691661.1:c.1418C>T	ENSP00000510185.1:p.Ala473Val
ENST00000691862.1:c.1304C>T	ENSP00000509291.1:p.Ala435Val
ENST00000692813.1:c.1406C>T	ENSP00000509080.1:p.Ala469Val
ENST00000692972.1:c.1481C>T	ENSP00000510753.1:p.Ala494Val
ENST00000693454.1:n.616C>T
ENST00000693602.1:n.1499C>T
ENST00000358951.7:c.1406C>T MANE Select	ENSP00000351832.2:p.Ala469Val
ENST00000358951.6:c.1406C>T	ENSP00000351832.2:p.Ala469Val
ENST00000478976.1:n.292-724C>T
NM_012414.3:c.1406C>T	NP_036546.2:p.Ala469Val
NM_012414.4:c.1406C>T MANE Select	NP_036546.2:p.Ala469Val