Canonical Allele Identifier: CA344645696

Gene: RAB3GAP2

Linked Data

• MyVariant Identifiers: chr1:g.220364591C>A (hg19) ; chr1:g.220191249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.220191249C>A , CM000663.2:g.220191249C>A	GRCh38
NC_000001.10:g.220364591C>A , CM000663.1:g.220364591C>A	GRCh37
NC_000001.9:g.218431214C>A	NCBI36
NG_015837.1:g.86253G>T
NG_015837.2:g.86253G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685286.1:c.1306G>T	ENSP00000509457.1:p.Val436Leu
ENST00000685664.1:c.1306G>T	ENSP00000509121.1:p.Val436Leu
ENST00000686381.1:c.1042G>T	ENSP00000509555.1:p.Val348Leu
ENST00000687065.1:c.1042G>T	ENSP00000510408.1:p.Val348Leu
ENST00000687394.1:n.1412G>T
ENST00000687647.1:c.1042G>T	ENSP00000509205.1:p.Val348Leu
ENST00000688035.1:n.1721G>T
ENST00000690315.1:c.1207G>T	ENSP00000509834.1:p.Val403Leu
ENST00000690373.1:n.1645G>T
ENST00000690379.1:n.1336G>T
ENST00000690824.1:c.1306G>T	ENSP00000510709.1:p.Val436Leu
ENST00000691661.1:c.1318G>T	ENSP00000510185.1:p.Val440Leu
ENST00000691862.1:c.1204G>T	ENSP00000509291.1:p.Val402Leu
ENST00000692813.1:c.1306G>T	ENSP00000509080.1:p.Val436Leu
ENST00000692972.1:c.1381G>T	ENSP00000510753.1:p.Val461Leu
ENST00000693454.1:n.516G>T
ENST00000693602.1:n.1399G>T
ENST00000358951.7:c.1306G>T MANE Select	ENSP00000351832.2:p.Val436Leu
ENST00000358951.6:c.1306G>T	ENSP00000351832.2:p.Val436Leu
ENST00000478976.1:n.292-824G>T
NM_012414.3:c.1306G>T	NP_036546.2:p.Val436Leu
NM_012414.4:c.1306G>T MANE Select	NP_036546.2:p.Val436Leu