Canonical Allele Identifier: CA1402236

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 295643
• ClinVar RCV Id: RCV000278970 ; RCV000343307 ; RCV000952485 ; RCV001459064 ; RCV004537642
• dbSNP Id: rs151244742
• ExAC: 1:220338086 T / C
• gnomAD v2: 1-220338086-T-C
• gnomAD v3: 1-220164744-T-C
• gnomAD v4: 1-220164744-T-C
• MyVariant Identifiers: chr1:g.220338086T>C (hg19) ; chr1:g.220164744T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220164744T>C , CM000663.2:g.220164744T>C	GRCh38
NC_000001.10:g.220338086T>C , CM000663.1:g.220338086T>C	GRCh37
NC_000001.9:g.218404709T>C	NCBI36
NG_015837.1:g.112758A>G
NG_015837.2:g.112758A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.*468A>G	ENSP00000509457.1:n.*468A>G
ENST00000685664.1:c.3143A>G	ENSP00000509121.1:p.His1048Arg
ENST00000686381.1:c.2879A>G	ENSP00000509555.1:p.His960Arg
ENST00000687065.1:c.2879A>G	ENSP00000510408.1:p.His960Arg
ENST00000687394.1:n.3249A>G
ENST00000687647.1:c.2879A>G	ENSP00000509205.1:p.His960Arg
ENST00000688035.1:n.6153A>G
ENST00000690315.1:c.3044A>G	ENSP00000509834.1:p.His1015Arg
ENST00000690373.1:n.3482A>G
ENST00000690824.1:c.3143A>G	ENSP00000510709.1:p.His1048Arg
ENST00000691661.1:c.3155A>G	ENSP00000510185.1:p.His1052Arg
ENST00000691862.1:c.3041A>G	ENSP00000509291.1:p.His1014Arg
ENST00000692813.1:c.3143A>G	ENSP00000509080.1:p.His1048Arg
ENST00000692972.1:c.3218A>G	ENSP00000510753.1:p.His1073Arg
ENST00000693602.1:n.5729A>G
ENST00000358951.7:c.3143A>G MANE Select	ENSP00000351832.2:p.His1048Arg
ENST00000358951.6:c.3143A>G	ENSP00000351832.2:p.His1048Arg
NM_012414.3:c.3143A>G	NP_036546.2:p.His1048Arg
NM_012414.4:c.3143A>G MANE Select	NP_036546.2:p.His1048Arg