Canonical Allele Identifier: CA915945694
Community Standard Title: NM_002865.3(RAB2A):c.119-5_119-2del
Gene: RAB2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60572041_60572044del , CM000670.2:g.60572041_60572044del GRCh38
NC_000008.10:g.61484600_61484603del , CM000670.1:g.61484600_61484603del GRCh37
NC_000008.9:g.61647154_61647157del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_002865.3:c.119-5_119-2del MANE Select NP_002856.1:n.119-5_119-2del
ENST00000262646.12:c.119-5_119-2del MANE Select ENSP00000262646.7:n.119-5_119-2del
NM_001242644.1:c.47-5_47-2del NP_001229573.1:n.47-5_47-2del
NM_002865.2:c.119-5_119-2del NP_002856.1:n.119-5_119-2del
ENST00000262646.11:c.119-5_119-2del ENSP00000262646.7:n.119-5_119-2del
ENST00000429861.5:n.91-5_91-2del
ENST00000466595.5:c.103-5_103-2del
ENST00000525529.5:n.130-5_130-2del
ENST00000529579.5:c.119-5_119-2del ENSP00000431589.1:n.119-5_119-2del
ENST00000531098.1:c.-20-5_-20-2del ENSP00000432735.1:n.-20-5_-20-2del
ENST00000531289.5:c.47-5_47-2del ENSP00000431846.1:n.47-5_47-2del
ENST00000534260.5:c.176-5_176-2del