Canonical Allele Identifier: CA3124785

Gene: RAPGEF2

Linked Data

• dbSNP Id: rs757167316
• ExAC: 4:160262722 T / C
• gnomAD v2: 4-160262722-T-C
• gnomAD v4: 4-159341570-T-C
• MyVariant Identifiers: chr4:g.160262722T>C (hg19) ; chr4:g.159341570T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.159341570T>C , CM000666.2:g.159341570T>C	GRCh38
NC_000004.11:g.160262722T>C , CM000666.1:g.160262722T>C	GRCh37
NC_000004.10:g.160482172T>C	NCBI36
NG_063926.1:g.242502T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505026.2:c.2058T>C	ENSP00000516108.1:p.Tyr686=
ENST00000691494.1:c.2541T>C MANE Select	ENSP00000510694.1:p.Tyr847=
ENST00000644474.1:c.2523T>C	ENSP00000495906.1:p.Tyr841=
ENST00000644902.1:c.2187T>C	ENSP00000495298.1:p.Tyr729=
ENST00000264431.8:c.2058T>C	ENSP00000264431.4:p.Tyr686=
NM_014247.2:c.2058T>C	NP_055062.1:p.Tyr686=
XM_005263358.2:c.2541T>C	XP_005263415.1:p.Tyr847=
XM_005263359.2:c.2541T>C	XP_005263416.1:p.Tyr847=
XM_005263360.2:c.2541T>C	XP_005263417.1:p.Tyr847=
XM_005263361.2:c.2523T>C	XP_005263418.1:p.Tyr841=
XM_006714420.2:c.2523T>C	XP_006714483.1:p.Tyr841=
XM_006714421.2:c.2541T>C	XP_006714484.1:p.Tyr847=
XM_006714422.2:c.2193T>C	XP_006714485.1:p.Tyr731=
XM_011532425.1:c.2205T>C	XP_011530727.1:p.Tyr735=
XM_011532426.1:c.2193T>C	XP_011530728.1:p.Tyr731=
XM_011532427.1:c.2058T>C	XP_011530729.1:p.Tyr686=
NM_001351724.1:c.2541T>C	NP_001338653.1:p.Tyr847=
NM_001351725.1:c.2193T>C	NP_001338654.1:p.Tyr731=
NM_001351726.1:c.2193T>C	NP_001338655.1:p.Tyr731=
NM_001351727.1:c.2058T>C	NP_001338656.1:p.Tyr686=
NM_001351728.1:c.2058T>C	NP_001338657.1:p.Tyr686=
XM_005263358.3:c.2541T>C	XP_005263415.1:p.Tyr847=
XM_005263359.4:c.2541T>C	XP_005263416.1:p.Tyr847=
XM_005263360.3:c.2541T>C	XP_005263417.1:p.Tyr847=
XM_005263361.3:c.2523T>C	XP_005263418.1:p.Tyr841=
XM_006714420.3:c.2523T>C	XP_006714483.1:p.Tyr841=
XM_006714422.4:c.2193T>C	XP_006714485.1:p.Tyr731=
XM_011532425.2:c.2205T>C	XP_011530727.1:p.Tyr735=
XM_011532426.2:c.2193T>C	XP_011530728.1:p.Tyr731=
XM_017008856.2:c.2541T>C	XP_016864345.1:p.Tyr847=
XM_024454286.1:c.2175T>C	XP_024310054.1:p.Tyr725=
XM_024454287.1:c.2175T>C	XP_024310055.1:p.Tyr725=
NM_001351724.2:c.2541T>C	NP_001338653.1:p.Tyr847=
NM_001351727.2:c.2058T>C	NP_001338656.1:p.Tyr686=
NM_001351728.2:c.2058T>C	NP_001338657.1:p.Tyr686=
NM_014247.3:c.2058T>C	NP_055062.1:p.Tyr686=
NM_001351724.4:c.2541T>C	NP_001338653.1:p.Tyr847=
NM_001351725.2:c.2193T>C	NP_001338654.1:p.Tyr731=
NM_001351726.3:c.2193T>C	NP_001338655.1:p.Tyr731=
NM_001351727.4:c.2058T>C	NP_001338656.1:p.Tyr686=
NM_001351728.4:c.2058T>C	NP_001338657.1:p.Tyr686=
NM_001394067.1:c.2541T>C	NP_001380996.1:p.Tyr847=
NM_014247.5:c.2058T>C	NP_055062.1:p.Tyr686=
NM_001351724.5:c.2541T>C	NP_001338653.1:p.Tyr847=
NM_001394067.2:c.2541T>C MANE Select	NP_001380996.1:p.Tyr847=