Canonical Allele Identifier: CA344645590
Gene: RAB3GAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.220191201A>C , CM000663.2:g.220191201A>C GRCh38
NC_000001.10:g.220364543A>C , CM000663.1:g.220364543A>C GRCh37
NC_000001.9:g.218431166A>C NCBI36
NG_015837.1:g.86301T>G
NG_015837.2:g.86301T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000685286.1:c.1354T>G ENSP00000509457.1:p.Phe452Val
ENST00000685664.1:c.1354T>G ENSP00000509121.1:p.Phe452Val
ENST00000686381.1:c.1090T>G ENSP00000509555.1:p.Phe364Val
ENST00000687065.1:c.1090T>G ENSP00000510408.1:p.Phe364Val
ENST00000687394.1:n.1460T>G
ENST00000687647.1:c.1090T>G ENSP00000509205.1:p.Phe364Val
ENST00000688035.1:n.1769T>G
ENST00000690315.1:c.1255T>G ENSP00000509834.1:p.Phe419Val
ENST00000690373.1:n.1693T>G
ENST00000690379.1:n.1384T>G
ENST00000690824.1:c.1354T>G ENSP00000510709.1:p.Phe452Val
ENST00000691661.1:c.1366T>G ENSP00000510185.1:p.Phe456Val
ENST00000691862.1:c.1252T>G ENSP00000509291.1:p.Phe418Val
ENST00000692813.1:c.1354T>G ENSP00000509080.1:p.Phe452Val
ENST00000692972.1:c.1429T>G ENSP00000510753.1:p.Phe477Val
ENST00000693454.1:n.564T>G
ENST00000693602.1:n.1447T>G
ENST00000358951.7:c.1354T>G MANE Select ENSP00000351832.2:p.Phe452Val
ENST00000358951.6:c.1354T>G ENSP00000351832.2:p.Phe452Val
ENST00000478976.1:n.292-776T>G
NM_012414.3:c.1354T>G NP_036546.2:p.Phe452Val
NM_012414.4:c.1354T>G MANE Select NP_036546.2:p.Phe452Val