Canonical Allele Identifier: CA1402130

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 295642
• ClinVar RCV Id: RCV000282429 ; RCV000419048 ; RCV000386137 ; RCV000874216 ; RCV001711771
• dbSNP Id: rs140377995
• ExAC: 1:220330777 C / T
• gnomAD v2: 1-220330777-C-T
• gnomAD v3: 1-220157435-C-T
• gnomAD v4: 1-220157435-C-T
• COSMIC: COSM904125
• MyVariant Identifiers: chr1:g.220330777C>T (hg19) ; chr1:g.220157435C>T (hg38)
• PubMed: PMID:27479907

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220157435C>T , CM000663.2:g.220157435C>T	GRCh38
NC_000001.10:g.220330777C>T , CM000663.1:g.220330777C>T	GRCh37
NC_000001.9:g.218397400C>T	NCBI36
NG_015837.1:g.120067G>A
NG_015837.2:g.120067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474966.2:n.1382G>A
ENST00000491005.6:n.1204G>A
ENST00000491305.2:n.673G>A
ENST00000685286.1:c.*715G>A	ENSP00000509457.1:n.*715G>A
ENST00000685664.1:c.3390G>A	ENSP00000509121.1:p.Ala1130=
ENST00000686381.1:c.3126G>A	ENSP00000509555.1:p.Ala1042=
ENST00000687065.1:c.3126G>A	ENSP00000510408.1:p.Ala1042=
ENST00000687394.1:n.3496G>A
ENST00000687647.1:c.3126G>A	ENSP00000509205.1:p.Ala1042=
ENST00000688035.1:n.6400G>A
ENST00000690315.1:c.3291G>A	ENSP00000509834.1:p.Ala1097=
ENST00000690373.1:n.3729G>A
ENST00000690824.1:c.3390G>A	ENSP00000510709.1:p.Ala1130=
ENST00000691661.1:c.3402G>A	ENSP00000510185.1:p.Ala1134=
ENST00000691862.1:c.3288G>A	ENSP00000509291.1:p.Ala1096=
ENST00000692813.1:c.3354G>A	ENSP00000509080.1:p.Ala1118=
ENST00000692972.1:c.3465G>A	ENSP00000510753.1:p.Ala1155=
ENST00000693602.1:n.5976G>A
ENST00000358951.7:c.3390G>A MANE Select	ENSP00000351832.2:p.Ala1130=
ENST00000358951.6:c.3390G>A	ENSP00000351832.2:p.Ala1130=
NM_012414.3:c.3390G>A	NP_036546.2:p.Ala1130=
NM_012414.4:c.3390G>A MANE Select	NP_036546.2:p.Ala1130=