Canonical Allele Identifier: CA344645738

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364608A>C (hg19) ; chr1:g.220191266A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191266A>C , CM000663.2:g.220191266A>C	GRCh38
NC_000001.10:g.220364608A>C , CM000663.1:g.220364608A>C	GRCh37
NC_000001.9:g.218431231A>C	NCBI36
NG_015837.1:g.86236T>G
NG_015837.2:g.86236T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1289T>G	ENSP00000509457.1:p.Ile430Ser
ENST00000685664.1:c.1289T>G	ENSP00000509121.1:p.Ile430Ser
ENST00000686381.1:c.1025T>G	ENSP00000509555.1:p.Ile342Ser
ENST00000687065.1:c.1025T>G	ENSP00000510408.1:p.Ile342Ser
ENST00000687394.1:n.1395T>G
ENST00000687647.1:c.1025T>G	ENSP00000509205.1:p.Ile342Ser
ENST00000688035.1:n.1704T>G
ENST00000690315.1:c.1190T>G	ENSP00000509834.1:p.Ile397Ser
ENST00000690373.1:n.1628T>G
ENST00000690379.1:n.1319T>G
ENST00000690824.1:c.1289T>G	ENSP00000510709.1:p.Ile430Ser
ENST00000691661.1:c.1301T>G	ENSP00000510185.1:p.Ile434Ser
ENST00000691862.1:c.1187T>G	ENSP00000509291.1:p.Ile396Ser
ENST00000692813.1:c.1289T>G	ENSP00000509080.1:p.Ile430Ser
ENST00000692972.1:c.1364T>G	ENSP00000510753.1:p.Ile455Ser
ENST00000693454.1:n.499T>G
ENST00000693602.1:n.1382T>G
ENST00000358951.7:c.1289T>G MANE Select	ENSP00000351832.2:p.Ile430Ser
ENST00000358951.6:c.1289T>G	ENSP00000351832.2:p.Ile430Ser
ENST00000478976.1:n.292-841T>G
NM_012414.3:c.1289T>G	NP_036546.2:p.Ile430Ser
NM_012414.4:c.1289T>G MANE Select	NP_036546.2:p.Ile430Ser