Canonical Allele Identifier: CA342804241
Community Standard Title: NM_001162383.2(ARHGEF2):c.734A>C (p.Gln245Pro)
Gene: ARHGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155963174T>G , CM000663.2:g.155963174T>G GRCh38
NC_000001.10:g.155932965T>G , CM000663.1:g.155932965T>G GRCh37
NC_000001.9:g.154199589T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001162383.2:c.734A>C MANE Select NP_001155855.1:p.Gln245Pro
ENST00000361247.9:c.734A>C MANE Select ENSP00000354837.4:p.Gln245Pro
NM_001162383.1:c.734A>C NP_001155855.1:p.Gln245Pro
NM_001162384.1:c.731A>C NP_001155856.1:p.Gln244Pro
NM_001162384.2:c.731A>C NP_001155856.1:p.Gln244Pro
NM_001350110.1:c.653A>C NP_001337039.1:p.Gln218Pro
NM_001350110.2:c.653A>C NP_001337039.1:p.Gln218Pro
NM_001350111.1:c.653A>C NP_001337040.1:p.Gln218Pro
NM_001350111.2:c.653A>C NP_001337040.1:p.Gln218Pro
NM_001350112.1:c.680A>C NP_001337041.1:p.Gln227Pro
NM_001350112.2:c.680A>C NP_001337041.1:p.Gln227Pro
NM_004723.3:c.650A>C NP_004714.2:p.Gln217Pro
NM_004723.4:c.650A>C NP_004714.2:p.Gln217Pro
ENST00000313667.8:c.731A>C ENSP00000314787.4:p.Gln244Pro
ENST00000313695.11:c.650A>C ENSP00000315325.7:p.Gln217Pro
ENST00000361247.8:c.734A>C ENSP00000354837.4:p.Gln245Pro
ENST00000462460.6:c.869A>C ENSP00000476916.1:p.Gln290Pro
ENST00000470874.5:c.325A>C ENSP00000477448.1:n.325A>C
ENST00000471589.5:c.653A>C ENSP00000477299.1:p.Gln218Pro
ENST00000477754.2:n.658-16094A>C
ENST00000673475.1:c.1163A>C ENSP00000500802.1:p.Gln388Pro
ENST00000696600.1:c.*396A>C ENSP00000512745.1:n.*396A>C
ENST00000696601.1:c.737A>C ENSP00000512746.1:p.Gln246Pro
XM_005245587.1:c.734A>C XP_005245644.1:p.Gln245Pro
XM_005245587.3:c.734A>C XP_005245644.1:p.Gln245Pro
XM_005245588.1:c.731A>C XP_005245645.1:p.Gln244Pro
XM_005245588.3:c.731A>C XP_005245645.1:p.Gln244Pro
XM_005245589.3:c.710A>C XP_005245646.1:p.Gln237Pro
XM_005245589.5:c.710A>C XP_005245646.1:p.Gln237Pro
XM_005245590.2:c.689A>C XP_005245647.1:p.Gln230Pro
XM_005245590.4:c.689A>C XP_005245647.1:p.Gln230Pro
XM_005245591.2:c.689A>C XP_005245648.1:p.Gln230Pro
XM_005245591.4:c.689A>C XP_005245648.1:p.Gln230Pro
XM_005245592.1:c.653A>C XP_005245649.1:p.Gln218Pro
XM_005245593.3:c.653A>C XP_005245650.1:p.Gln218Pro
XM_005245594.1:c.653A>C XP_005245651.1:p.Gln218Pro
XM_005245594.3:c.653A>C XP_005245651.1:p.Gln218Pro
XM_006711622.2:c.683A>C XP_006711685.1:p.Gln228Pro
XM_006711622.4:c.683A>C XP_006711685.1:p.Gln228Pro
XM_006711623.2:c.506A>C XP_006711686.1:p.Gln169Pro
XM_006711623.4:c.506A>C XP_006711686.1:p.Gln169Pro
XM_006711624.2:c.506A>C XP_006711687.1:p.Gln169Pro
XM_006711624.4:c.506A>C XP_006711687.1:p.Gln169Pro
XM_006711625.2:c.506A>C XP_006711688.1:p.Gln169Pro
XM_006711625.4:c.506A>C XP_006711688.1:p.Gln169Pro
XM_006711626.1:c.506A>C XP_006711689.1:p.Gln169Pro
XM_006711626.3:c.506A>C XP_006711689.1:p.Gln169Pro
XM_011510136.1:c.686A>C XP_011508438.1:p.Gln229Pro
XM_011510136.3:c.1160A>C XP_011508438.2:p.Gln387Pro
XM_011510137.1:c.689A>C XP_011508439.1:p.Gln230Pro
XM_011510137.3:c.1163A>C XP_011508439.2:p.Gln388Pro
XM_011510138.1:c.869A>C XP_011508440.1:p.Gln290Pro
XM_011510139.1:c.1163A>C XP_011508441.1:p.Gln388Pro
XM_011510139.3:c.1163A>C XP_011508441.1:p.Gln388Pro
XM_011510140.1:c.869A>C XP_011508442.1:p.Gln290Pro
XM_011510141.1:c.722A>C XP_011508443.1:p.Gln241Pro
XM_011510142.1:c.866A>C XP_011508444.1:p.Gln289Pro
XM_011510143.1:c.197A>C XP_011508445.1:p.Gln66Pro
XM_011510143.3:c.197A>C XP_011508445.1:p.Gln66Pro
XM_017002794.2:c.1160A>C XP_016858283.1:p.Gln387Pro
XM_017002795.2:c.707A>C XP_016858284.1:p.Gln236Pro
XM_017002797.2:c.650A>C XP_016858286.1:p.Gln217Pro
XM_017002798.2:c.506A>C XP_016858287.1:p.Gln169Pro
XM_024450815.1:c.506A>C XP_024306583.1:p.Gln169Pro
XM_024450823.1:c.503A>C XP_024306591.1:p.Gln168Pro