Canonical Allele Identifier: CA7373281
Community Standard Title: NM_022489.4(INF2):c.3509G>A (p.Gly1170Glu)
Gene: INF2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.104714671G>A , CM000676.2:g.104714671G>A GRCh38
NC_000014.8:g.105181008G>A , CM000676.1:g.105181008G>A GRCh37
NC_000014.7:g.104252053G>A NCBI36
NG_027684.1:g.30066G>A

Transcript Alleles

HGVS Amino-acid Change
NM_022489.4:c.3509G>A MANE Select NP_071934.3:p.Gly1170Glu
ENST00000392634.9:c.3509G>A MANE Select ENSP00000376410.4:p.Gly1170Glu
NM_001031714.3:c.3509G>A NP_001026884.3:p.Gly1170Glu
NM_001031714.4:c.3509G>A NP_001026884.3:p.Gly1170Glu
NM_022489.3:c.3509G>A NP_071934.3:p.Gly1170Glu
ENST00000252527.8:c.1913G>A ENSP00000252527.8:p.Gly638Glu
ENST00000330634.11:c.3509G>A ENSP00000376406.3:p.Gly1170Glu
ENST00000392634.8:c.3509G>A ENSP00000376410.4:p.Gly1170Glu
ENST00000617571.4:c.-625G>A ENSP00000483829.1:n.-625G>A
ENST00000617571.5:c.3505G>A ENSP00000483829.2:n.3505G>A
ENST00000674520.1:c.3504G>A ENSP00000502593.1:n.3504G>A
ENST00000674631.1:c.1547G>A ENSP00000502830.1:p.Gly516Glu
ENST00000674662.1:c.3513G>A ENSP00000501895.1:n.3513G>A
ENST00000674757.1:c.3514G>A ENSP00000502202.1:n.3514G>A
ENST00000674822.1:c.3393G>A ENSP00000501552.1:n.3393G>A
ENST00000674846.1:c.3504G>A ENSP00000502431.1:n.3504G>A
ENST00000674857.1:c.3498G>A ENSP00000501687.1:n.3498G>A
ENST00000674960.1:c.3367G>A ENSP00000501841.1:n.3367G>A
ENST00000674991.1:c.2759G>A ENSP00000502004.1:p.Gly920Glu
ENST00000675207.1:c.3605G>A ENSP00000502644.1:p.Gly1202Glu
ENST00000675329.1:c.3485G>A ENSP00000502287.1:p.Gly1162Glu
ENST00000675481.1:c.3509G>A ENSP00000502723.1:p.Gly1170Glu
ENST00000675583.1:c.3438G>A ENSP00000501740.1:n.3438G>A
ENST00000675603.1:n.749G>A
ENST00000675638.1:c.3428G>A ENSP00000501647.1:p.Gly1143Glu
ENST00000675724.1:c.3447G>A ENSP00000502576.1:n.3447G>A
ENST00000675771.1:c.2772G>A ENSP00000502104.1:n.2772G>A
ENST00000675797.1:c.2914G>A ENSP00000502023.1:n.2914G>A
ENST00000675809.1:c.3564G>A ENSP00000502587.1:n.3564G>A
ENST00000675930.1:c.3397G>A ENSP00000502456.1:p.Gly1133Arg
ENST00000675980.1:c.3527G>A ENSP00000502520.1:p.Gly1176Glu
ENST00000676016.1:c.3408G>A ENSP00000502412.1:n.3408G>A
ENST00000676366.1:c.3316G>A ENSP00000501605.1:p.Gly1106Arg
XM_005268004.3:c.3605G>A XP_005268061.1:p.Gly1202Glu
XM_005268004.4:c.3605G>A XP_005268061.1:p.Gly1202Glu
XM_005268005.3:c.3605G>A XP_005268062.1:p.Gly1202Glu
XM_005268005.4:c.3605G>A XP_005268062.1:p.Gly1202Glu
XM_017021595.1:c.3605G>A XP_016877084.1:p.Gly1202Glu
XR_943507.1:n.3734G>A