Canonical Allele Identifier: CA206883

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 211984
• ClinVar RCV Id: RCV000193412 ; RCV000299268 ; RCV000393027 ; RCV000877111 ; RCV001705085
• dbSNP Id: rs201613456
• ExAC: 1:220356264 G / C
• gnomAD v2: 1-220356264-G-C
• gnomAD v3: 1-220182922-G-C
• gnomAD v4: 1-220182922-G-C
• MyVariant Identifiers: chr1:g.220356264G>C (hg19) ; chr1:g.220182922G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220182922G>C , CM000663.2:g.220182922G>C	GRCh38
NC_000001.10:g.220356264G>C , CM000663.1:g.220356264G>C	GRCh37
NC_000001.9:g.218422887G>C	NCBI36
NG_015837.1:g.94580C>G
NG_015837.2:g.94580C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.2008C>G	ENSP00000509457.1:p.Leu670Val
ENST00000685664.1:c.2008C>G	ENSP00000509121.1:p.Leu670Val
ENST00000686381.1:c.1744C>G	ENSP00000509555.1:p.Leu582Val
ENST00000687065.1:c.1744C>G	ENSP00000510408.1:p.Leu582Val
ENST00000687394.1:n.2114C>G
ENST00000687647.1:c.1744C>G	ENSP00000509205.1:p.Leu582Val
ENST00000688035.1:n.2423C>G
ENST00000690315.1:c.1909C>G	ENSP00000509834.1:p.Leu637Val
ENST00000690373.1:n.2347C>G
ENST00000690824.1:c.2008C>G	ENSP00000510709.1:p.Leu670Val
ENST00000691661.1:c.2020C>G	ENSP00000510185.1:p.Leu674Val
ENST00000691862.1:c.1906C>G	ENSP00000509291.1:p.Leu636Val
ENST00000692813.1:c.2008C>G	ENSP00000509080.1:p.Leu670Val
ENST00000692972.1:c.2083C>G	ENSP00000510753.1:p.Leu695Val
ENST00000693454.1:n.1218C>G
ENST00000693602.1:n.2101C>G
ENST00000358951.7:c.2008C>G MANE Select	ENSP00000351832.2:p.Leu670Val
ENST00000358951.6:c.2008C>G	ENSP00000351832.2:p.Leu670Val
NM_012414.3:c.2008C>G	NP_036546.2:p.Leu670Val
NM_012414.4:c.2008C>G MANE Select	NP_036546.2:p.Leu670Val