Canonical Allele Identifier: CA344645692

Gene: RAB3GAP2

Linked Data

• gnomAD v4: 1-220191246-C-T
• MyVariant Identifiers: chr1:g.220364588C>T (hg19) ; chr1:g.220191246C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191246C>T , CM000663.2:g.220191246C>T	GRCh38
NC_000001.10:g.220364588C>T , CM000663.1:g.220364588C>T	GRCh37
NC_000001.9:g.218431211C>T	NCBI36
NG_015837.1:g.86256G>A
NG_015837.2:g.86256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1309G>A	ENSP00000509457.1:p.Glu437Lys
ENST00000685664.1:c.1309G>A	ENSP00000509121.1:p.Glu437Lys
ENST00000686381.1:c.1045G>A	ENSP00000509555.1:p.Glu349Lys
ENST00000687065.1:c.1045G>A	ENSP00000510408.1:p.Glu349Lys
ENST00000687394.1:n.1415G>A
ENST00000687647.1:c.1045G>A	ENSP00000509205.1:p.Glu349Lys
ENST00000688035.1:n.1724G>A
ENST00000690315.1:c.1210G>A	ENSP00000509834.1:p.Glu404Lys
ENST00000690373.1:n.1648G>A
ENST00000690379.1:n.1339G>A
ENST00000690824.1:c.1309G>A	ENSP00000510709.1:p.Glu437Lys
ENST00000691661.1:c.1321G>A	ENSP00000510185.1:p.Glu441Lys
ENST00000691862.1:c.1207G>A	ENSP00000509291.1:p.Glu403Lys
ENST00000692813.1:c.1309G>A	ENSP00000509080.1:p.Glu437Lys
ENST00000692972.1:c.1384G>A	ENSP00000510753.1:p.Glu462Lys
ENST00000693454.1:n.519G>A
ENST00000693602.1:n.1402G>A
ENST00000358951.7:c.1309G>A MANE Select	ENSP00000351832.2:p.Glu437Lys
ENST00000358951.6:c.1309G>A	ENSP00000351832.2:p.Glu437Lys
ENST00000478976.1:n.292-821G>A
NM_012414.3:c.1309G>A	NP_036546.2:p.Glu437Lys
NM_012414.4:c.1309G>A MANE Select	NP_036546.2:p.Glu437Lys