Canonical Allele Identifier: CA10609219

Gene: RAB3GAP2

Linked Data

• ClinVar Variation Id: 295638
• ClinVar RCV Id: RCV000305520 ; RCV000360283
• dbSNP Id: rs886046017
• gnomAD v4: 1-220151654-C-A
• MyVariant Identifiers: chr1:g.220324996C>A (hg19) ; chr1:g.220151654C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220151654C>A , CM000663.2:g.220151654C>A	GRCh38
NC_000001.10:g.220324996C>A , CM000663.1:g.220324996C>A	GRCh37
NC_000001.9:g.218391619C>A	NCBI36
NG_015837.1:g.125848G>T
NG_015837.2:g.125848G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474966.2:n.1970G>T
ENST00000491005.6:n.5004G>T
ENST00000491305.2:n.4473G>T
ENST00000685286.1:c.*1303G>T	ENSP00000509457.1:n.*1303G>T
ENST00000685664.1:c.3978G>T	ENSP00000509121.1:p.Glu1326Asp
ENST00000686381.1:c.3714G>T	ENSP00000509555.1:p.Glu1238Asp
ENST00000687065.1:c.3714G>T	ENSP00000510408.1:p.Glu1238Asp
ENST00000687647.1:c.3714G>T	ENSP00000509205.1:p.Glu1238Asp
ENST00000688035.1:n.6988G>T
ENST00000690315.1:c.3879G>T	ENSP00000509834.1:p.Glu1293Asp
ENST00000690373.1:n.4317G>T
ENST00000690824.1:c.3903G>T	ENSP00000510709.1:p.Glu1301Asp
ENST00000691661.1:c.3990G>T	ENSP00000510185.1:p.Glu1330Asp
ENST00000691862.1:c.3876G>T	ENSP00000509291.1:p.Glu1292Asp
ENST00000692813.1:c.3942G>T	ENSP00000509080.1:p.Glu1314Asp
ENST00000692972.1:c.4053G>T	ENSP00000510753.1:p.Glu1351Asp
ENST00000693602.1:n.6564G>T
ENST00000358951.7:c.3978G>T MANE Select	ENSP00000351832.2:p.Glu1326Asp
ENST00000358951.6:c.3978G>T	ENSP00000351832.2:p.Glu1326Asp
ENST00000474966.1:n.649G>T
ENST00000491005.5:n.426G>T
ENST00000491305.1:n.794G>T
NM_012414.3:c.3978G>T	NP_036546.2:p.Glu1326Asp
NM_012414.4:c.3978G>T MANE Select	NP_036546.2:p.Glu1326Asp