Canonical Allele Identifier: CA423169613

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364598A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191256A>T , CM000663.2:g.220191256A>T	GRCh38
NC_000001.10:g.220364598A>T , CM000663.1:g.220364598A>T	GRCh37
NC_000001.9:g.218431221A>T	NCBI36
NG_015837.1:g.86246T>A
NG_015837.2:g.86246T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1299T>A	ENSP00000509457.1:p.Ile433=
ENST00000685664.1:c.1299T>A	ENSP00000509121.1:p.Ile433=
ENST00000686381.1:c.1035T>A	ENSP00000509555.1:p.Ile345=
ENST00000687065.1:c.1035T>A	ENSP00000510408.1:p.Ile345=
ENST00000687394.1:n.1405T>A
ENST00000687647.1:c.1035T>A	ENSP00000509205.1:p.Ile345=
ENST00000688035.1:n.1714T>A
ENST00000690315.1:c.1200T>A	ENSP00000509834.1:p.Ile400=
ENST00000690373.1:n.1638T>A
ENST00000690379.1:n.1329T>A
ENST00000690824.1:c.1299T>A	ENSP00000510709.1:p.Ile433=
ENST00000691661.1:c.1311T>A	ENSP00000510185.1:p.Ile437=
ENST00000691862.1:c.1197T>A	ENSP00000509291.1:p.Ile399=
ENST00000692813.1:c.1299T>A	ENSP00000509080.1:p.Ile433=
ENST00000692972.1:c.1374T>A	ENSP00000510753.1:p.Ile458=
ENST00000693454.1:n.509T>A
ENST00000693602.1:n.1392T>A
ENST00000358951.7:c.1299T>A MANE Select	ENSP00000351832.2:p.Ile433=
ENST00000358951.6:c.1299T>A	ENSP00000351832.2:p.Ile433=
ENST00000478976.1:n.292-831T>A
NM_012414.3:c.1299T>A	NP_036546.2:p.Ile433=
NM_012414.4:c.1299T>A MANE Select	NP_036546.2:p.Ile433=