Canonical Allele Identifier: CA7372904
Community Standard Title: NM_022489.4(INF2):c.2410G>A (p.Val804Met)
Gene: INF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104711178G>A , CM000676.2:g.104711178G>A GRCh38
NC_000014.8:g.105177515G>A , CM000676.1:g.105177515G>A GRCh37
NC_000014.7:g.104248560G>A NCBI36
NG_027684.1:g.26573G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022489.4:c.2410G>A MANE Select NP_071934.3:p.Val804Met
ENST00000392634.9:c.2410G>A MANE Select ENSP00000376410.4:p.Val804Met
NM_001031714.3:c.2410G>A NP_001026884.3:p.Val804Met
NM_001031714.4:c.2410G>A NP_001026884.3:p.Val804Met
NM_022489.3:c.2410G>A NP_071934.3:p.Val804Met
ENST00000252527.8:c.814G>A ENSP00000252527.8:p.Val272Met
ENST00000330634.11:c.2410G>A ENSP00000376406.3:p.Val804Met
ENST00000392634.8:c.2410G>A ENSP00000376410.4:p.Val804Met
ENST00000474229.1:n.903G>A
ENST00000480763.2:n.283+171G>A
ENST00000617571.4:c.-1724G>A ENSP00000483829.1:n.-1724G>A
ENST00000617571.5:c.2410G>A ENSP00000483829.2:p.Val804Met
ENST00000674520.1:c.2410G>A ENSP00000502593.1:p.Val804Met
ENST00000674631.1:c.448G>A ENSP00000502830.1:p.Val150Met
ENST00000674662.1:c.2414G>A ENSP00000501895.1:n.2414G>A
ENST00000674757.1:c.2410G>A ENSP00000502202.1:p.Val804Met
ENST00000674822.1:c.2294G>A ENSP00000501552.1:n.2294G>A
ENST00000674846.1:c.2405G>A ENSP00000502431.1:n.2405G>A
ENST00000674857.1:c.2399G>A ENSP00000501687.1:n.2399G>A
ENST00000674960.1:c.2268G>A ENSP00000501841.1:n.2268G>A
ENST00000674991.1:c.1660G>A ENSP00000502004.1:p.Val554Met
ENST00000674994.1:c.2376G>A ENSP00000502442.1:n.2376G>A
ENST00000675207.1:c.2506G>A ENSP00000502644.1:p.Val836Met
ENST00000675329.1:c.2386G>A ENSP00000502287.1:p.Val796Met
ENST00000675481.1:c.2410G>A ENSP00000502723.1:p.Val804Met
ENST00000675557.1:n.189G>A
ENST00000675583.1:c.2339G>A ENSP00000501740.1:n.2339G>A
ENST00000675638.1:c.2410G>A ENSP00000501647.1:p.Val804Met
ENST00000675724.1:c.2348G>A ENSP00000502576.1:n.2348G>A
ENST00000675771.1:c.1673G>A ENSP00000502104.1:n.1673G>A
ENST00000675797.1:c.1815G>A ENSP00000502023.1:n.1815G>A
ENST00000675809.1:c.2465G>A ENSP00000502587.1:n.2465G>A
ENST00000675930.1:c.2410G>A ENSP00000502456.1:p.Val804Met
ENST00000675980.1:c.2428G>A ENSP00000502520.1:p.Val810Met
ENST00000676016.1:c.2309G>A ENSP00000502412.1:n.2309G>A
ENST00000676366.1:c.2410G>A ENSP00000501605.1:p.Val804Met
XM_005268004.3:c.2506G>A XP_005268061.1:p.Val836Met
XM_005268004.4:c.2506G>A XP_005268061.1:p.Val836Met
XM_005268005.3:c.2506G>A XP_005268062.1:p.Val836Met
XM_005268005.4:c.2506G>A XP_005268062.1:p.Val836Met
XM_017021595.1:c.2506G>A XP_016877084.1:p.Val836Met
XR_001750518.1:n.2666G>A
XR_943507.1:n.2635G>A