Canonical Allele Identifier: CA7373026
Community Standard Title: NM_022489.4(INF2):c.2629C>T (p.Arg877Trp)
Gene: INF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104712846C>T , CM000676.2:g.104712846C>T GRCh38
NC_000014.8:g.105179183C>T , CM000676.1:g.105179183C>T GRCh37
NC_000014.7:g.104250228C>T NCBI36
NG_027684.1:g.28241C>T

Transcript Alleles

HGVS Amino-acid Change
NM_022489.4:c.2629C>T MANE Select NP_071934.3:p.Arg877Trp
ENST00000392634.9:c.2629C>T MANE Select ENSP00000376410.4:p.Arg877Trp
NM_001031714.3:c.2629C>T NP_001026884.3:p.Arg877Trp
NM_001031714.4:c.2629C>T NP_001026884.3:p.Arg877Trp
NM_022489.3:c.2629C>T NP_071934.3:p.Arg877Trp
ENST00000252527.8:c.1033C>T ENSP00000252527.8:p.Arg345Trp
ENST00000330634.11:c.2629C>T ENSP00000376406.3:p.Arg877Trp
ENST00000392634.8:c.2629C>T ENSP00000376410.4:p.Arg877Trp
ENST00000477497.1:n.134C>T
ENST00000480763.2:n.494C>T
ENST00000617571.4:c.-1505C>T ENSP00000483829.1:n.-1505C>T
ENST00000617571.5:c.2629C>T ENSP00000483829.2:p.Arg877Trp
ENST00000674520.1:c.2624C>T ENSP00000502593.1:p.Pro875Leu
ENST00000674631.1:c.667C>T ENSP00000502830.1:p.Arg223Trp
ENST00000674662.1:c.2633C>T ENSP00000501895.1:n.2633C>T
ENST00000674757.1:c.2629C>T ENSP00000502202.1:p.Arg877Trp
ENST00000674822.1:c.2513C>T ENSP00000501552.1:n.2513C>T
ENST00000674846.1:c.2624C>T ENSP00000502431.1:n.2624C>T
ENST00000674857.1:c.2618C>T ENSP00000501687.1:n.2618C>T
ENST00000674960.1:c.2487C>T ENSP00000501841.1:n.2487C>T
ENST00000674991.1:c.1879C>T ENSP00000502004.1:p.Arg627Trp
ENST00000674994.1:c.2595C>T ENSP00000502442.1:n.2595C>T
ENST00000675207.1:c.2725C>T ENSP00000502644.1:p.Arg909Trp
ENST00000675329.1:c.2605C>T ENSP00000502287.1:p.Arg869Trp
ENST00000675481.1:c.2629C>T ENSP00000502723.1:p.Arg877Trp
ENST00000675557.1:n.408C>T
ENST00000675583.1:c.2558C>T ENSP00000501740.1:n.2558C>T
ENST00000675638.1:c.2629C>T ENSP00000501647.1:p.Arg877Trp
ENST00000675724.1:c.2567C>T ENSP00000502576.1:n.2567C>T
ENST00000675771.1:c.1892C>T ENSP00000502104.1:n.1892C>T
ENST00000675797.1:c.2034C>T ENSP00000502023.1:n.2034C>T
ENST00000675809.1:c.2684C>T ENSP00000502587.1:n.2684C>T
ENST00000675930.1:c.2629C>T ENSP00000502456.1:p.Arg877Trp
ENST00000675980.1:c.2647C>T ENSP00000502520.1:p.Arg883Trp
ENST00000676016.1:c.2528C>T ENSP00000502412.1:n.2528C>T
ENST00000676366.1:c.2629C>T ENSP00000501605.1:p.Arg877Trp
XM_005268004.3:c.2725C>T XP_005268061.1:p.Arg909Trp
XM_005268004.4:c.2725C>T XP_005268061.1:p.Arg909Trp
XM_005268005.3:c.2725C>T XP_005268062.1:p.Arg909Trp
XM_005268005.4:c.2725C>T XP_005268062.1:p.Arg909Trp
XM_017021595.1:c.2725C>T XP_016877084.1:p.Arg909Trp
XR_943507.1:n.2854C>T