Canonical Allele Identifier: CA1403114

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 450964
• ClinVar RCV Id: RCV000523969 ; RCV002060275
• dbSNP Id: rs111859466
• ExAC: 1:220406148 T / G
• gnomAD v2: 1-220406148-T-G
• gnomAD v3: 1-220232806-T-G
• gnomAD v4: 1-220232806-T-G
• MyVariant Identifiers: chr1:g.220406148T>G (hg19) ; chr1:g.220232806T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220232806T>G , CM000663.2:g.220232806T>G	GRCh38
NC_000001.10:g.220406148T>G , CM000663.1:g.220406148T>G	GRCh37
NC_000001.9:g.218472771T>G	NCBI36
NG_015837.1:g.44696A>C
NG_015837.2:g.44696A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684982.1:n.225A>C
ENST00000685286.1:c.173A>C	ENSP00000509457.1:p.Gln58Pro
ENST00000685664.1:c.173A>C	ENSP00000509121.1:p.Gln58Pro
ENST00000686381.1:c.-92A>C	ENSP00000509555.1:n.-92A>C
ENST00000687065.1:c.-92A>C	ENSP00000510408.1:n.-92A>C
ENST00000687394.1:n.279A>C
ENST00000687647.1:c.-92A>C	ENSP00000509205.1:n.-92A>C
ENST00000688035.1:n.199A>C
ENST00000688281.1:n.203A>C
ENST00000689820.1:c.173A>C	ENSP00000509387.1:p.Gln58Pro
ENST00000690315.1:c.173A>C	ENSP00000509834.1:p.Gln58Pro
ENST00000690373.1:n.201A>C
ENST00000690379.1:n.203A>C
ENST00000690824.1:c.173A>C	ENSP00000510709.1:p.Gln58Pro
ENST00000691661.1:c.173A>C	ENSP00000510185.1:p.Gln58Pro
ENST00000691862.1:c.173A>C	ENSP00000509291.1:p.Gln58Pro
ENST00000692208.1:n.260A>C
ENST00000692813.1:c.173A>C	ENSP00000509080.1:p.Gln58Pro
ENST00000692972.1:c.173A>C	ENSP00000510753.1:p.Gln58Pro
ENST00000693602.1:n.266A>C
ENST00000358951.7:c.173A>C MANE Select	ENSP00000351832.2:p.Gln58Pro
ENST00000237724.9:n.250A>C
ENST00000358951.6:c.173A>C	ENSP00000351832.2:p.Gln58Pro
ENST00000474178.1:c.173A>C	ENSP00000420156.1:p.Gln58Pro
ENST00000475769.1:n.173A>C
ENST00000478976.1:n.291+38351A>C
NM_012414.3:c.173A>C	NP_036546.2:p.Gln58Pro
NM_012414.4:c.173A>C MANE Select	NP_036546.2:p.Gln58Pro