Canonical Allele Identifier: CA7372682
Community Standard Title: NM_022489.4(INF2):c.1812A>T (p.Arg604=)
Gene: INF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104708512A>T , CM000676.2:g.104708512A>T GRCh38
NC_000014.8:g.105174849A>T , CM000676.1:g.105174849A>T GRCh37
NC_000014.7:g.104245894A>T NCBI36
NG_027684.1:g.23907A>T

Transcript Alleles

HGVS Amino-acid Change
NM_022489.4:c.1812A>T MANE Select NP_071934.3:p.Arg604=
ENST00000392634.9:c.1812A>T MANE Select ENSP00000376410.4:p.Arg604=
NM_001031714.3:c.1812A>T NP_001026884.3:p.Arg604=
NM_001031714.4:c.1812A>T NP_001026884.3:p.Arg604=
NM_022489.3:c.1812A>T NP_071934.3:p.Arg604=
ENST00000252527.8:c.216A>T ENSP00000252527.8:p.Arg72=
ENST00000330634.11:c.1812A>T ENSP00000376406.3:p.Arg604=
ENST00000392634.8:c.1812A>T ENSP00000376410.4:p.Arg604=
ENST00000474229.1:n.222A>T
ENST00000617571.4:c.-2312A>T ENSP00000483829.1:n.-2312A>T
ENST00000617571.5:c.1812A>T ENSP00000483829.2:p.Arg604=
ENST00000674520.1:c.1812A>T ENSP00000502593.1:p.Arg604=
ENST00000674602.1:c.751-20A>T
ENST00000674662.1:c.1812A>T ENSP00000501895.1:p.Arg604=
ENST00000674757.1:c.1812A>T ENSP00000502202.1:p.Arg604=
ENST00000674822.1:c.1696A>T ENSP00000501552.1:n.1696A>T
ENST00000674846.1:c.1812A>T ENSP00000502431.1:p.Arg604=
ENST00000674857.1:c.1801A>T ENSP00000501687.1:n.1801A>T
ENST00000674960.1:c.1670A>T ENSP00000501841.1:n.1670A>T
ENST00000674991.1:c.1062A>T ENSP00000502004.1:p.Arg354=
ENST00000674994.1:c.1778A>T ENSP00000502442.1:n.1778A>T
ENST00000675207.1:c.1908A>T ENSP00000502644.1:p.Arg636=
ENST00000675329.1:c.1788A>T ENSP00000502287.1:p.Arg596=
ENST00000675481.1:c.1812A>T ENSP00000502723.1:p.Arg604=
ENST00000675583.1:c.1812A>T ENSP00000501740.1:p.Arg604=
ENST00000675638.1:c.1812A>T ENSP00000501647.1:p.Arg604=
ENST00000675724.1:c.1812A>T ENSP00000502576.1:p.Arg604=
ENST00000675771.1:c.1075A>T ENSP00000502104.1:n.1075A>T
ENST00000675797.1:c.1217A>T ENSP00000502023.1:n.1217A>T
ENST00000675809.1:c.1812A>T ENSP00000502587.1:p.Arg604=
ENST00000675930.1:c.1812A>T ENSP00000502456.1:p.Arg604=
ENST00000675980.1:c.1812A>T ENSP00000502520.1:p.Arg604=
ENST00000676016.1:c.1812A>T ENSP00000502412.1:p.Arg604=
ENST00000676366.1:c.1812A>T ENSP00000501605.1:p.Arg604=
XM_005268004.3:c.1908A>T XP_005268061.1:p.Arg636=
XM_005268004.4:c.1908A>T XP_005268061.1:p.Arg636=
XM_005268005.3:c.1908A>T XP_005268062.1:p.Arg636=
XM_005268005.4:c.1908A>T XP_005268062.1:p.Arg636=
XM_017021595.1:c.1908A>T XP_016877084.1:p.Arg636=
XR_001750518.1:n.2013A>T
XR_943507.1:n.2037A>T