Canonical Allele Identifier: CA2830535179
Gene: RAPGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.159341561_159341562del , CM000666.2:g.159341561_159341562del GRCh38
NC_000004.11:g.160262713_160262714del , CM000666.1:g.160262713_160262714del GRCh37
NC_000004.10:g.160482163_160482164del NCBI36
NG_063926.1:g.242493_242494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000505026.2:c.2052-3_2052-2del ENSP00000516108.1:n.2052-3_2052-2del
ENST00000691494.1:c.2535-3_2535-2del MANE Select ENSP00000510694.1:n.2535-3_2535-2del
ENST00000644474.1:c.2517-3_2517-2del ENSP00000495906.1:n.2517-3_2517-2del
ENST00000644902.1:c.2181-3_2181-2del ENSP00000495298.1:n.2181-3_2181-2del
ENST00000264431.8:c.2052-3_2052-2del ENSP00000264431.4:n.2052-3_2052-2del
NM_014247.2:c.2052-3_2052-2del NP_055062.1:n.2052-3_2052-2del
XM_005263358.2:c.2535-3_2535-2del XP_005263415.1:n.2535-3_2535-2del
XM_005263359.2:c.2535-3_2535-2del XP_005263416.1:n.2535-3_2535-2del
XM_005263360.2:c.2535-3_2535-2del XP_005263417.1:n.2535-3_2535-2del
XM_005263361.2:c.2517-3_2517-2del XP_005263418.1:n.2517-3_2517-2del
XM_006714420.2:c.2517-3_2517-2del XP_006714483.1:n.2517-3_2517-2del
XM_006714421.2:c.2535-3_2535-2del XP_006714484.1:n.2535-3_2535-2del
XM_006714422.2:c.2187-3_2187-2del XP_006714485.1:n.2187-3_2187-2del
XM_011532425.1:c.2199-3_2199-2del XP_011530727.1:n.2199-3_2199-2del
XM_011532426.1:c.2187-3_2187-2del XP_011530728.1:n.2187-3_2187-2del
XM_011532427.1:c.2052-3_2052-2del XP_011530729.1:n.2052-3_2052-2del
NM_001351724.1:c.2535-3_2535-2del NP_001338653.1:n.2535-3_2535-2del
NM_001351725.1:c.2187-3_2187-2del NP_001338654.1:n.2187-3_2187-2del
NM_001351726.1:c.2187-3_2187-2del NP_001338655.1:n.2187-3_2187-2del
NM_001351727.1:c.2052-3_2052-2del NP_001338656.1:n.2052-3_2052-2del
NM_001351728.1:c.2052-3_2052-2del NP_001338657.1:n.2052-3_2052-2del
XM_005263358.3:c.2535-3_2535-2del XP_005263415.1:n.2535-3_2535-2del
XM_005263359.4:c.2535-3_2535-2del XP_005263416.1:n.2535-3_2535-2del
XM_005263360.3:c.2535-3_2535-2del XP_005263417.1:n.2535-3_2535-2del
XM_005263361.3:c.2517-3_2517-2del XP_005263418.1:n.2517-3_2517-2del
XM_006714420.3:c.2517-3_2517-2del XP_006714483.1:n.2517-3_2517-2del
XM_006714422.4:c.2187-3_2187-2del XP_006714485.1:n.2187-3_2187-2del
XM_011532425.2:c.2199-3_2199-2del XP_011530727.1:n.2199-3_2199-2del
XM_011532426.2:c.2187-3_2187-2del XP_011530728.1:n.2187-3_2187-2del
XM_017008856.2:c.2535-3_2535-2del XP_016864345.1:n.2535-3_2535-2del
XM_024454286.1:c.2169-3_2169-2del XP_024310054.1:n.2169-3_2169-2del
XM_024454287.1:c.2169-3_2169-2del XP_024310055.1:n.2169-3_2169-2del
NM_001351724.2:c.2535-3_2535-2del NP_001338653.1:n.2535-3_2535-2del
NM_001351727.2:c.2052-3_2052-2del NP_001338656.1:n.2052-3_2052-2del
NM_001351728.2:c.2052-3_2052-2del NP_001338657.1:n.2052-3_2052-2del
NM_014247.3:c.2052-3_2052-2del NP_055062.1:n.2052-3_2052-2del
NM_001351724.4:c.2535-3_2535-2del NP_001338653.1:n.2535-3_2535-2del
NM_001351725.2:c.2187-3_2187-2del NP_001338654.1:n.2187-3_2187-2del
NM_001351726.3:c.2187-3_2187-2del NP_001338655.1:n.2187-3_2187-2del
NM_001351727.4:c.2052-3_2052-2del NP_001338656.1:n.2052-3_2052-2del
NM_001351728.4:c.2052-3_2052-2del NP_001338657.1:n.2052-3_2052-2del
NM_001394067.1:c.2535-3_2535-2del NP_001380996.1:n.2535-3_2535-2del
NM_014247.5:c.2052-3_2052-2del NP_055062.1:n.2052-3_2052-2del
NM_001351724.5:c.2535-3_2535-2del NP_001338653.1:n.2535-3_2535-2del
NM_001394067.2:c.2535-3_2535-2del MANE Select NP_001380996.1:n.2535-3_2535-2del