Canonical Allele Identifier: CA358591139

Gene: RAPGEF2

Linked Data

• MyVariant Identifiers: chr4:g.160262786G>T (hg19) ; chr4:g.159341634G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.159341634G>T , CM000666.2:g.159341634G>T	GRCh38
NC_000004.11:g.160262786G>T , CM000666.1:g.160262786G>T	GRCh37
NC_000004.10:g.160482236G>T	NCBI36
NG_063926.1:g.242566G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505026.2:c.2122G>T	ENSP00000516108.1:p.Glu708Ter
ENST00000691494.1:c.2605G>T MANE Select	ENSP00000510694.1:p.Glu869Ter
ENST00000644474.1:c.2587G>T	ENSP00000495906.1:p.Glu863Ter
ENST00000644902.1:c.2251G>T	ENSP00000495298.1:p.Glu751Ter
ENST00000264431.8:c.2122G>T	ENSP00000264431.4:p.Glu708Ter
NM_014247.2:c.2122G>T	NP_055062.1:p.Glu708Ter
XM_005263358.2:c.2605G>T	XP_005263415.1:p.Glu869Ter
XM_005263359.2:c.2605G>T	XP_005263416.1:p.Glu869Ter
XM_005263360.2:c.2605G>T	XP_005263417.1:p.Glu869Ter
XM_005263361.2:c.2587G>T	XP_005263418.1:p.Glu863Ter
XM_006714420.2:c.2587G>T	XP_006714483.1:p.Glu863Ter
XM_006714421.2:c.2605G>T	XP_006714484.1:p.Glu869Ter
XM_006714422.2:c.2257G>T	XP_006714485.1:p.Glu753Ter
XM_011532425.1:c.2269G>T	XP_011530727.1:p.Glu757Ter
XM_011532426.1:c.2257G>T	XP_011530728.1:p.Glu753Ter
XM_011532427.1:c.2122G>T	XP_011530729.1:p.Glu708Ter
NM_001351724.1:c.2605G>T	NP_001338653.1:p.Glu869Ter
NM_001351725.1:c.2257G>T	NP_001338654.1:p.Glu753Ter
NM_001351726.1:c.2257G>T	NP_001338655.1:p.Glu753Ter
NM_001351727.1:c.2122G>T	NP_001338656.1:p.Glu708Ter
NM_001351728.1:c.2122G>T	NP_001338657.1:p.Glu708Ter
XM_005263358.3:c.2605G>T	XP_005263415.1:p.Glu869Ter
XM_005263359.4:c.2605G>T	XP_005263416.1:p.Glu869Ter
XM_005263360.3:c.2605G>T	XP_005263417.1:p.Glu869Ter
XM_005263361.3:c.2587G>T	XP_005263418.1:p.Glu863Ter
XM_006714420.3:c.2587G>T	XP_006714483.1:p.Glu863Ter
XM_006714422.4:c.2257G>T	XP_006714485.1:p.Glu753Ter
XM_011532425.2:c.2269G>T	XP_011530727.1:p.Glu757Ter
XM_011532426.2:c.2257G>T	XP_011530728.1:p.Glu753Ter
XM_017008856.2:c.2605G>T	XP_016864345.1:p.Glu869Ter
XM_024454286.1:c.2239G>T	XP_024310054.1:p.Glu747Ter
XM_024454287.1:c.2239G>T	XP_024310055.1:p.Glu747Ter
NM_001351724.2:c.2605G>T	NP_001338653.1:p.Glu869Ter
NM_001351727.2:c.2122G>T	NP_001338656.1:p.Glu708Ter
NM_001351728.2:c.2122G>T	NP_001338657.1:p.Glu708Ter
NM_014247.3:c.2122G>T	NP_055062.1:p.Glu708Ter
NM_001351724.4:c.2605G>T	NP_001338653.1:p.Glu869Ter
NM_001351725.2:c.2257G>T	NP_001338654.1:p.Glu753Ter
NM_001351726.3:c.2257G>T	NP_001338655.1:p.Glu753Ter
NM_001351727.4:c.2122G>T	NP_001338656.1:p.Glu708Ter
NM_001351728.4:c.2122G>T	NP_001338657.1:p.Glu708Ter
NM_001394067.1:c.2605G>T	NP_001380996.1:p.Glu869Ter
NM_014247.5:c.2122G>T	NP_055062.1:p.Glu708Ter
NM_001351724.5:c.2605G>T	NP_001338653.1:p.Glu869Ter
NM_001394067.2:c.2605G>T MANE Select	NP_001380996.1:p.Glu869Ter