Canonical Allele Identifier: CA206092

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 211989
• ClinVar RCV Id: RCV000192933 ; RCV000638451 ; RCV001096880 ; RCV001096881 ; RCV001721259 ; RCV004530142
• dbSNP Id: rs59190330
• ExAC: 1:220324715 T / C
• gnomAD v2: 1-220324715-T-C
• gnomAD v3: 1-220151373-T-C
• gnomAD v4: 1-220151373-T-C
• MyVariant Identifiers: chr1:g.220324715T>C (hg19) ; chr1:g.220151373T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220151373T>C , CM000663.2:g.220151373T>C	GRCh38
NC_000001.10:g.220324715T>C , CM000663.1:g.220324715T>C	GRCh37
NC_000001.9:g.218391338T>C	NCBI36
NG_015837.1:g.126129A>G
NG_015837.2:g.126129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474966.2:n.2052A>G
ENST00000491005.6:n.5086A>G
ENST00000491305.2:n.4555A>G
ENST00000685286.1:c.*1385A>G	ENSP00000509457.1:n.*1385A>G
ENST00000685664.1:c.*182A>G	ENSP00000509121.1:n.*182A>G
ENST00000686381.1:c.3796A>G	ENSP00000509555.1:p.Ile1266Val
ENST00000687065.1:c.3796A>G	ENSP00000510408.1:p.Ile1266Val
ENST00000687647.1:c.3796A>G	ENSP00000509205.1:p.Ile1266Val
ENST00000688035.1:n.7070A>G
ENST00000690315.1:c.3961A>G	ENSP00000509834.1:p.Ile1321Val
ENST00000690373.1:n.4399A>G
ENST00000690824.1:c.3985A>G	ENSP00000510709.1:p.Ile1329Val
ENST00000691661.1:c.4072A>G	ENSP00000510185.1:p.Ile1358Val
ENST00000691862.1:c.3958A>G	ENSP00000509291.1:p.Ile1320Val
ENST00000692813.1:c.4024A>G	ENSP00000509080.1:p.Ile1342Val
ENST00000692972.1:c.4135A>G	ENSP00000510753.1:p.Ile1379Val
ENST00000693602.1:n.6646A>G
ENST00000358951.7:c.4060A>G MANE Select	ENSP00000351832.2:p.Ile1354Val
ENST00000358951.6:c.4060A>G	ENSP00000351832.2:p.Ile1354Val
ENST00000474966.1:n.731A>G
ENST00000491005.5:n.707A>G
NM_012414.3:c.4060A>G	NP_036546.2:p.Ile1354Val
NM_012414.4:c.4060A>G MANE Select	NP_036546.2:p.Ile1354Val