Canonical Allele Identifier: CA645540200

Gene: RAPGEF2

Linked Data

• gnomAD v4: 4-159341629-TGAGA-T
• COSMIC: COSM5650933

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.159341635_159341638del , CM000666.2:g.159341635_159341638del	GRCh38
NC_000004.11:g.160262787_160262790del , CM000666.1:g.160262787_160262790del	GRCh37
NC_000004.10:g.160482237_160482240del	NCBI36
NG_063926.1:g.242567_242570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505026.2:c.2123_2126del	ENSP00000516108.1:p.Glu708ValfsTer?
ENST00000691494.1:c.2606_2609del MANE Select	ENSP00000510694.1:p.Glu869ValfsTer?
ENST00000644474.1:c.2588_2591del	ENSP00000495906.1:p.Glu863ValfsTer?
ENST00000644902.1:c.2252_2255del	ENSP00000495298.1:p.Glu751ValfsTer?
ENST00000264431.8:c.2123_2126del	ENSP00000264431.4:p.Glu708ValfsTer?
NM_014247.2:c.2123_2126del	NP_055062.1:p.Glu708ValfsTer?
XM_005263358.2:c.2606_2609del	XP_005263415.1:p.Glu869ValfsTer?
XM_005263359.2:c.2606_2609del	XP_005263416.1:p.Glu869ValfsTer?
XM_005263360.2:c.2606_2609del	XP_005263417.1:p.Glu869ValfsTer?
XM_005263361.2:c.2588_2591del	XP_005263418.1:p.Glu863ValfsTer?
XM_006714420.2:c.2588_2591del	XP_006714483.1:p.Glu863ValfsTer?
XM_006714421.2:c.2606_2609del	XP_006714484.1:p.Glu869ValfsTer?
XM_006714422.2:c.2258_2261del	XP_006714485.1:p.Glu753ValfsTer?
XM_011532425.1:c.2270_2273del	XP_011530727.1:p.Glu757ValfsTer?
XM_011532426.1:c.2258_2261del	XP_011530728.1:p.Glu753ValfsTer?
XM_011532427.1:c.2123_2126del	XP_011530729.1:p.Glu708ValfsTer?
NM_001351724.1:c.2606_2609del	NP_001338653.1:p.Glu869ValfsTer?
NM_001351725.1:c.2258_2261del	NP_001338654.1:p.Glu753ValfsTer?
NM_001351726.1:c.2258_2261del	NP_001338655.1:p.Glu753ValfsTer?
NM_001351727.1:c.2123_2126del	NP_001338656.1:p.Glu708ValfsTer?
NM_001351728.1:c.2123_2126del	NP_001338657.1:p.Glu708ValfsTer?
XM_005263358.3:c.2606_2609del	XP_005263415.1:p.Glu869ValfsTer?
XM_005263359.4:c.2606_2609del	XP_005263416.1:p.Glu869ValfsTer?
XM_005263360.3:c.2606_2609del	XP_005263417.1:p.Glu869ValfsTer?
XM_005263361.3:c.2588_2591del	XP_005263418.1:p.Glu863ValfsTer?
XM_006714420.3:c.2588_2591del	XP_006714483.1:p.Glu863ValfsTer?
XM_006714422.4:c.2258_2261del	XP_006714485.1:p.Glu753ValfsTer?
XM_011532425.2:c.2270_2273del	XP_011530727.1:p.Glu757ValfsTer?
XM_011532426.2:c.2258_2261del	XP_011530728.1:p.Glu753ValfsTer?
XM_017008856.2:c.2606_2609del	XP_016864345.1:p.Glu869ValfsTer?
XM_024454286.1:c.2240_2243del	XP_024310054.1:p.Glu747ValfsTer?
XM_024454287.1:c.2240_2243del	XP_024310055.1:p.Glu747ValfsTer?
NM_001351724.2:c.2606_2609del	NP_001338653.1:p.Glu869ValfsTer?
NM_001351727.2:c.2123_2126del	NP_001338656.1:p.Glu708ValfsTer?
NM_001351728.2:c.2123_2126del	NP_001338657.1:p.Glu708ValfsTer?
NM_014247.3:c.2123_2126del	NP_055062.1:p.Glu708ValfsTer?
NM_001351724.4:c.2606_2609del	NP_001338653.1:p.Glu869ValfsTer?
NM_001351725.2:c.2258_2261del	NP_001338654.1:p.Glu753ValfsTer?
NM_001351726.3:c.2258_2261del	NP_001338655.1:p.Glu753ValfsTer?
NM_001351727.4:c.2123_2126del	NP_001338656.1:p.Glu708ValfsTer?
NM_001351728.4:c.2123_2126del	NP_001338657.1:p.Glu708ValfsTer?
NM_001394067.1:c.2606_2609del	NP_001380996.1:p.Glu869ValfsTer?
NM_014247.5:c.2123_2126del	NP_055062.1:p.Glu708ValfsTer?
NM_001351724.5:c.2606_2609del	NP_001338653.1:p.Glu869ValfsTer?
NM_001394067.2:c.2606_2609del MANE Select	NP_001380996.1:p.Glu869ValfsTer?