Canonical Allele Identifier: CA2672534869

Gene: RAPGEF2

Linked Data

• gnomAD v4: 4-159341590-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.159341592_159341593del , CM000666.2:g.159341592_159341593del	GRCh38
NC_000004.11:g.160262744_160262745del , CM000666.1:g.160262744_160262745del	GRCh37
NC_000004.10:g.160482194_160482195del	NCBI36
NG_063926.1:g.242524_242525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505026.2:c.2080_2081del	ENSP00000516108.1:p.Glu694AsnfsTer6
ENST00000691494.1:c.2563_2564del MANE Select	ENSP00000510694.1:p.Glu855AsnfsTer6
ENST00000644474.1:c.2545_2546del	ENSP00000495906.1:p.Glu849AsnfsTer6
ENST00000644902.1:c.2209_2210del	ENSP00000495298.1:p.Glu737AsnfsTer6
ENST00000264431.8:c.2080_2081del	ENSP00000264431.4:p.Glu694AsnfsTer6
NM_014247.2:c.2080_2081del	NP_055062.1:p.Glu694AsnfsTer6
XM_005263358.2:c.2563_2564del	XP_005263415.1:p.Glu855AsnfsTer6
XM_005263359.2:c.2563_2564del	XP_005263416.1:p.Glu855AsnfsTer6
XM_005263360.2:c.2563_2564del	XP_005263417.1:p.Glu855AsnfsTer6
XM_005263361.2:c.2545_2546del	XP_005263418.1:p.Glu849AsnfsTer6
XM_006714420.2:c.2545_2546del	XP_006714483.1:p.Glu849AsnfsTer6
XM_006714421.2:c.2563_2564del	XP_006714484.1:p.Glu855AsnfsTer6
XM_006714422.2:c.2215_2216del	XP_006714485.1:p.Glu739AsnfsTer6
XM_011532425.1:c.2227_2228del	XP_011530727.1:p.Glu743AsnfsTer6
XM_011532426.1:c.2215_2216del	XP_011530728.1:p.Glu739AsnfsTer6
XM_011532427.1:c.2080_2081del	XP_011530729.1:p.Glu694AsnfsTer6
NM_001351724.1:c.2563_2564del	NP_001338653.1:p.Glu855AsnfsTer6
NM_001351725.1:c.2215_2216del	NP_001338654.1:p.Glu739AsnfsTer6
NM_001351726.1:c.2215_2216del	NP_001338655.1:p.Glu739AsnfsTer6
NM_001351727.1:c.2080_2081del	NP_001338656.1:p.Glu694AsnfsTer6
NM_001351728.1:c.2080_2081del	NP_001338657.1:p.Glu694AsnfsTer6
XM_005263358.3:c.2563_2564del	XP_005263415.1:p.Glu855AsnfsTer6
XM_005263359.4:c.2563_2564del	XP_005263416.1:p.Glu855AsnfsTer6
XM_005263360.3:c.2563_2564del	XP_005263417.1:p.Glu855AsnfsTer6
XM_005263361.3:c.2545_2546del	XP_005263418.1:p.Glu849AsnfsTer6
XM_006714420.3:c.2545_2546del	XP_006714483.1:p.Glu849AsnfsTer6
XM_006714422.4:c.2215_2216del	XP_006714485.1:p.Glu739AsnfsTer6
XM_011532425.2:c.2227_2228del	XP_011530727.1:p.Glu743AsnfsTer6
XM_011532426.2:c.2215_2216del	XP_011530728.1:p.Glu739AsnfsTer6
XM_017008856.2:c.2563_2564del	XP_016864345.1:p.Glu855AsnfsTer6
XM_024454286.1:c.2197_2198del	XP_024310054.1:p.Glu733AsnfsTer6
XM_024454287.1:c.2197_2198del	XP_024310055.1:p.Glu733AsnfsTer6
NM_001351724.2:c.2563_2564del	NP_001338653.1:p.Glu855AsnfsTer6
NM_001351727.2:c.2080_2081del	NP_001338656.1:p.Glu694AsnfsTer6
NM_001351728.2:c.2080_2081del	NP_001338657.1:p.Glu694AsnfsTer6
NM_014247.3:c.2080_2081del	NP_055062.1:p.Glu694AsnfsTer6
NM_001351724.4:c.2563_2564del	NP_001338653.1:p.Glu855AsnfsTer6
NM_001351725.2:c.2215_2216del	NP_001338654.1:p.Glu739AsnfsTer6
NM_001351726.3:c.2215_2216del	NP_001338655.1:p.Glu739AsnfsTer6
NM_001351727.4:c.2080_2081del	NP_001338656.1:p.Glu694AsnfsTer6
NM_001351728.4:c.2080_2081del	NP_001338657.1:p.Glu694AsnfsTer6
NM_001394067.1:c.2563_2564del	NP_001380996.1:p.Glu855AsnfsTer6
NM_014247.5:c.2080_2081del	NP_055062.1:p.Glu694AsnfsTer6
NM_001351724.5:c.2563_2564del	NP_001338653.1:p.Glu855AsnfsTer6
NM_001394067.2:c.2563_2564del MANE Select	NP_001380996.1:p.Glu855AsnfsTer6