Canonical Allele Identifier: CA7372576
Community Standard Title: NM_022489.4(INF2):c.1485G>A (p.Pro495=)
Gene: INF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104707752G>A , CM000676.2:g.104707752G>A GRCh38
NC_000014.8:g.105174089G>A , CM000676.1:g.105174089G>A GRCh37
NC_000014.7:g.104245134G>A NCBI36
NG_027684.1:g.23147G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022489.4:c.1485G>A MANE Select NP_071934.3:p.Pro495=
ENST00000392634.9:c.1485G>A MANE Select ENSP00000376410.4:p.Pro495=
NM_001031714.3:c.1485G>A NP_001026884.3:p.Pro495=
NM_001031714.4:c.1485G>A NP_001026884.3:p.Pro495=
NM_022489.3:c.1485G>A NP_071934.3:p.Pro495=
ENST00000330634.11:c.1485G>A ENSP00000376406.3:p.Pro495=
ENST00000392634.8:c.1485G>A ENSP00000376410.4:p.Pro495=
ENST00000617571.5:c.1485G>A ENSP00000483829.2:p.Pro495=
ENST00000674520.1:c.1485G>A ENSP00000502593.1:p.Pro495=
ENST00000674602.1:c.500G>A
ENST00000674662.1:c.1485G>A ENSP00000501895.1:p.Pro495=
ENST00000674757.1:c.1485G>A ENSP00000502202.1:p.Pro495=
ENST00000674822.1:c.1369G>A ENSP00000501552.1:n.1369G>A
ENST00000674846.1:c.1485G>A ENSP00000502431.1:p.Pro495=
ENST00000674857.1:c.1474G>A ENSP00000501687.1:n.1474G>A
ENST00000674960.1:c.1343G>A ENSP00000501841.1:n.1343G>A
ENST00000674991.1:c.986-684G>A ENSP00000502004.1:n.986-684G>A
ENST00000674994.1:c.1451G>A ENSP00000502442.1:n.1451G>A
ENST00000675207.1:c.1581G>A ENSP00000502644.1:p.Pro527=
ENST00000675329.1:c.1461G>A ENSP00000502287.1:p.Pro487=
ENST00000675481.1:c.1485G>A ENSP00000502723.1:p.Pro495=
ENST00000675583.1:c.1485G>A ENSP00000501740.1:p.Pro495=
ENST00000675638.1:c.1485G>A ENSP00000501647.1:p.Pro495=
ENST00000675724.1:c.1485G>A ENSP00000502576.1:p.Pro495=
ENST00000675771.1:c.844-96G>A ENSP00000502104.1:n.844-96G>A
ENST00000675797.1:c.986-96G>A ENSP00000502023.1:n.986-96G>A
ENST00000675809.1:c.1485G>A ENSP00000502587.1:p.Pro495=
ENST00000675930.1:c.1485G>A ENSP00000502456.1:p.Pro495=
ENST00000675980.1:c.1485G>A ENSP00000502520.1:p.Pro495=
ENST00000676016.1:c.1485G>A ENSP00000502412.1:p.Pro495=
ENST00000676366.1:c.1485G>A ENSP00000501605.1:p.Pro495=
XM_005268004.3:c.1581G>A XP_005268061.1:p.Pro527=
XM_005268004.4:c.1581G>A XP_005268061.1:p.Pro527=
XM_005268005.3:c.1581G>A XP_005268062.1:p.Pro527=
XM_005268005.4:c.1581G>A XP_005268062.1:p.Pro527=
XM_017021595.1:c.1581G>A XP_016877084.1:p.Pro527=
XR_001750518.1:n.1686G>A
XR_943507.1:n.1710G>A