Canonical Allele Identifier: CA1402752

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 295663
• ClinVar RCV Id: RCV002520418 ; RCV000391817 ; RCV002520417 ; RCV000304830
• dbSNP Id: rs752780415
• ExAC: 1:220366725 A / G
• gnomAD v2: 1-220366725-A-G
• gnomAD v3: 1-220193383-A-G
• gnomAD v4: 1-220193383-A-G
• MyVariant Identifiers: chr1:g.220366725A>G (hg19) ; chr1:g.220193383A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220193383A>G , CM000663.2:g.220193383A>G	GRCh38
NC_000001.10:g.220366725A>G , CM000663.1:g.220366725A>G	GRCh37
NC_000001.9:g.218433348A>G	NCBI36
NG_015837.1:g.84119T>C
NG_015837.2:g.84119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1131-4T>C	ENSP00000509457.1:n.1131-4T>C
ENST00000685664.1:c.1131-4T>C	ENSP00000509121.1:n.1131-4T>C
ENST00000686381.1:c.867-4T>C	ENSP00000509555.1:n.867-4T>C
ENST00000687065.1:c.867-4T>C	ENSP00000510408.1:n.867-4T>C
ENST00000687394.1:n.1237-4T>C
ENST00000687647.1:c.867-4T>C	ENSP00000509205.1:n.867-4T>C
ENST00000688035.1:n.1546-4T>C
ENST00000690315.1:c.1032-4T>C	ENSP00000509834.1:n.1032-4T>C
ENST00000690373.1:n.1470-4T>C
ENST00000690379.1:n.1161-4T>C
ENST00000690824.1:c.1131-4T>C	ENSP00000510709.1:n.1131-4T>C
ENST00000691661.1:c.1143-4T>C	ENSP00000510185.1:n.1143-4T>C
ENST00000691862.1:c.1029-4T>C	ENSP00000509291.1:n.1029-4T>C
ENST00000692813.1:c.1131-4T>C	ENSP00000509080.1:n.1131-4T>C
ENST00000692972.1:c.1206-4T>C	ENSP00000510753.1:n.1206-4T>C
ENST00000693454.1:n.341-4T>C
ENST00000693602.1:n.1224-4T>C
ENST00000358951.7:c.1131-4T>C MANE Select	ENSP00000351832.2:n.1131-4T>C
ENST00000358951.6:c.1131-4T>C	ENSP00000351832.2:n.1131-4T>C
ENST00000478976.1:n.292-2958T>C
NM_012414.3:c.1131-4T>C	NP_036546.2:n.1131-4T>C
NM_012414.4:c.1131-4T>C MANE Select	NP_036546.2:n.1131-4T>C