Canonical Allele Identifier: CA342805703
Community Standard Title: NM_001162383.2(ARHGEF2):c.287C>T (p.Ala96Val)
Gene: ARHGEF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155966469G>A , CM000663.2:g.155966469G>A GRCh38
NC_000001.10:g.155936260G>A , CM000663.1:g.155936260G>A GRCh37
NC_000001.9:g.154202884G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001162383.2:c.287C>T MANE Select NP_001155855.1:p.Ala96Val
ENST00000361247.9:c.287C>T MANE Select ENSP00000354837.4:p.Ala96Val
NM_001162383.1:c.287C>T NP_001155855.1:p.Ala96Val
NM_001162384.1:c.287C>T NP_001155856.1:p.Ala96Val
NM_001162384.2:c.287C>T NP_001155856.1:p.Ala96Val
NM_001350110.1:c.206C>T NP_001337039.1:p.Ala69Val
NM_001350110.2:c.206C>T NP_001337039.1:p.Ala69Val
NM_001350111.1:c.206C>T NP_001337040.1:p.Ala69Val
NM_001350111.2:c.206C>T NP_001337040.1:p.Ala69Val
NM_001350112.1:c.236C>T NP_001337041.1:p.Ala79Val
NM_001350112.2:c.236C>T NP_001337041.1:p.Ala79Val
NM_004723.3:c.206C>T NP_004714.2:p.Ala69Val
NM_004723.4:c.206C>T NP_004714.2:p.Ala69Val
ENST00000313667.8:c.287C>T ENSP00000314787.4:p.Ala96Val
ENST00000313695.11:c.206C>T ENSP00000315325.7:p.Ala69Val
ENST00000361247.8:c.287C>T ENSP00000354837.4:p.Ala96Val
ENST00000462460.6:c.422C>T ENSP00000476916.1:p.Ala141Val
ENST00000470874.5:c.11C>T ENSP00000477448.1:p.Ala4Val
ENST00000471589.5:c.206C>T ENSP00000477299.1:p.Ala69Val
ENST00000476273.1:n.361C>T
ENST00000477754.2:n.658-19389C>T
ENST00000497907.5:c.206C>T ENSP00000476724.1:p.Ala69Val
ENST00000609707.1:c.263C>T ENSP00000476699.1:p.Ala88Val
ENST00000673475.1:c.716C>T ENSP00000500802.1:p.Ala239Val
ENST00000696600.1:c.222C>T ENSP00000512745.1:p.Ser74=
ENST00000696601.1:c.290C>T ENSP00000512746.1:p.Ala97Val
XM_005245587.1:c.287C>T XP_005245644.1:p.Ala96Val
XM_005245587.3:c.287C>T XP_005245644.1:p.Ala96Val
XM_005245588.1:c.287C>T XP_005245645.1:p.Ala96Val
XM_005245588.3:c.287C>T XP_005245645.1:p.Ala96Val
XM_005245589.3:c.263C>T XP_005245646.1:p.Ala88Val
XM_005245589.5:c.263C>T XP_005245646.1:p.Ala88Val
XM_005245590.2:c.242C>T XP_005245647.1:p.Ala81Val
XM_005245590.4:c.242C>T XP_005245647.1:p.Ala81Val
XM_005245591.2:c.242C>T XP_005245648.1:p.Ala81Val
XM_005245591.4:c.242C>T XP_005245648.1:p.Ala81Val
XM_005245592.1:c.206C>T XP_005245649.1:p.Ala69Val
XM_005245593.3:c.206C>T XP_005245650.1:p.Ala69Val
XM_005245594.1:c.206C>T XP_005245651.1:p.Ala69Val
XM_005245594.3:c.206C>T XP_005245651.1:p.Ala69Val
XM_006711622.2:c.236C>T XP_006711685.1:p.Ala79Val
XM_006711622.4:c.236C>T XP_006711685.1:p.Ala79Val
XM_006711623.2:c.59C>T XP_006711686.1:p.Ala20Val
XM_006711623.4:c.59C>T XP_006711686.1:p.Ala20Val
XM_006711624.2:c.59C>T XP_006711687.1:p.Ala20Val
XM_006711624.4:c.59C>T XP_006711687.1:p.Ala20Val
XM_006711625.2:c.59C>T XP_006711688.1:p.Ala20Val
XM_006711625.4:c.59C>T XP_006711688.1:p.Ala20Val
XM_006711626.1:c.59C>T XP_006711689.1:p.Ala20Val
XM_006711626.3:c.59C>T XP_006711689.1:p.Ala20Val
XM_011510136.1:c.242C>T XP_011508438.1:p.Ala81Val
XM_011510136.3:c.716C>T XP_011508438.2:p.Ala239Val
XM_011510137.1:c.242C>T XP_011508439.1:p.Ala81Val
XM_011510137.3:c.716C>T XP_011508439.2:p.Ala239Val
XM_011510138.1:c.422C>T XP_011508440.1:p.Ala141Val
XM_011510139.1:c.716C>T XP_011508441.1:p.Ala239Val
XM_011510139.3:c.716C>T XP_011508441.1:p.Ala239Val
XM_011510140.1:c.422C>T XP_011508442.1:p.Ala141Val
XM_011510141.1:c.275C>T XP_011508443.1:p.Ala92Val
XM_011510142.1:c.422C>T XP_011508444.1:p.Ala141Val
XM_011510143.1:c.-121C>T XP_011508445.1:n.-121C>T
XM_011510143.3:c.-121C>T XP_011508445.1:n.-121C>T
XM_017002794.2:c.716C>T XP_016858283.1:p.Ala239Val
XM_017002795.2:c.263C>T XP_016858284.1:p.Ala88Val
XM_017002797.2:c.206C>T XP_016858286.1:p.Ala69Val
XM_017002798.2:c.59C>T XP_016858287.1:p.Ala20Val
XM_024450815.1:c.59C>T XP_024306583.1:p.Ala20Val
XM_024450823.1:c.59C>T XP_024306591.1:p.Ala20Val