Canonical Allele Identifier: CA7372431
Community Standard Title: NM_022489.4(INF2):c.839A>G (p.His280Arg)
Gene: INF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104706172A>G , CM000676.2:g.104706172A>G GRCh38
NC_000014.8:g.105172509A>G , CM000676.1:g.105172509A>G GRCh37
NC_000014.7:g.104243554A>G NCBI36
NG_027684.1:g.21567A>G

Transcript Alleles

HGVS Amino-acid Change
NM_022489.4:c.839A>G MANE Select NP_071934.3:p.His280Arg
ENST00000392634.9:c.839A>G MANE Select ENSP00000376410.4:p.His280Arg
NM_001031714.3:c.839A>G NP_001026884.3:p.His280Arg
NM_001031714.4:c.839A>G NP_001026884.3:p.His280Arg
NM_022489.3:c.839A>G NP_071934.3:p.His280Arg
ENST00000330634.11:c.839A>G ENSP00000376406.3:p.His280Arg
ENST00000392634.8:c.839A>G ENSP00000376410.4:p.His280Arg
ENST00000617571.5:c.839A>G ENSP00000483829.2:p.His280Arg
ENST00000674520.1:c.839A>G ENSP00000502593.1:p.His280Arg
ENST00000674662.1:c.839A>G ENSP00000501895.1:p.His280Arg
ENST00000674757.1:c.839A>G ENSP00000502202.1:p.His280Arg
ENST00000674822.1:c.723A>G ENSP00000501552.1:n.723A>G
ENST00000674846.1:c.839A>G ENSP00000502431.1:p.His280Arg
ENST00000674857.1:c.828A>G ENSP00000501687.1:n.828A>G
ENST00000674960.1:c.839A>G ENSP00000501841.1:p.His280Arg
ENST00000674991.1:c.839A>G ENSP00000502004.1:p.His280Arg
ENST00000674994.1:c.805A>G ENSP00000502442.1:n.805A>G
ENST00000675207.1:c.935A>G ENSP00000502644.1:p.His312Arg
ENST00000675329.1:c.819+20A>G ENSP00000502287.1:n.819+20A>G
ENST00000675481.1:c.839A>G ENSP00000502723.1:p.His280Arg
ENST00000675583.1:c.839A>G ENSP00000501740.1:p.His280Arg
ENST00000675638.1:c.839A>G ENSP00000501647.1:p.His280Arg
ENST00000675724.1:c.839A>G ENSP00000502576.1:p.His280Arg
ENST00000675771.1:c.839A>G ENSP00000502104.1:p.His280Arg
ENST00000675797.1:c.839A>G ENSP00000502023.1:p.His280Arg
ENST00000675809.1:c.839A>G ENSP00000502587.1:p.His280Arg
ENST00000675930.1:c.839A>G ENSP00000502456.1:p.His280Arg
ENST00000675980.1:c.839A>G ENSP00000502520.1:p.His280Arg
ENST00000676016.1:c.839A>G ENSP00000502412.1:p.His280Arg
ENST00000676134.1:n.138A>G
ENST00000676366.1:c.839A>G ENSP00000501605.1:p.His280Arg
XM_005268004.3:c.935A>G XP_005268061.1:p.His312Arg
XM_005268004.4:c.935A>G XP_005268061.1:p.His312Arg
XM_005268005.3:c.935A>G XP_005268062.1:p.His312Arg
XM_005268005.4:c.935A>G XP_005268062.1:p.His312Arg
XM_017021595.1:c.935A>G XP_016877084.1:p.His312Arg
XR_001750518.1:n.1040A>G
XR_943507.1:n.1064A>G