Canonical Allele Identifier: CA7373211

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714403G>T , CM000676.2:g.104714403G>T	GRCh38
NC_000014.8:g.105180740G>T , CM000676.1:g.105180740G>T	GRCh37
NC_000014.7:g.104251785G>T	NCBI36
NG_027684.1:g.29798G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3241G>T MANE Select	NP_071934.3:p.Asp1081Tyr
ENST00000392634.9:c.3241G>T MANE Select	ENSP00000376410.4:p.Asp1081Tyr
NM_001031714.3:c.3241G>T	NP_001026884.3:p.Asp1081Tyr
NM_001031714.4:c.3241G>T	NP_001026884.3:p.Asp1081Tyr
NM_022489.3:c.3241G>T	NP_071934.3:p.Asp1081Tyr
ENST00000252527.8:c.1645G>T	ENSP00000252527.8:p.Asp549Tyr
ENST00000330634.11:c.3241G>T	ENSP00000376406.3:p.Asp1081Tyr
ENST00000392634.8:c.3241G>T	ENSP00000376410.4:p.Asp1081Tyr
ENST00000617571.4:c.-893G>T	ENSP00000483829.1:n.-893G>T
ENST00000617571.5:c.3237G>T	ENSP00000483829.2:n.3237G>T
ENST00000674520.1:c.3236G>T	ENSP00000502593.1:n.3236G>T
ENST00000674631.1:c.1279G>T	ENSP00000502830.1:p.Asp427Tyr
ENST00000674662.1:c.3245G>T	ENSP00000501895.1:n.3245G>T
ENST00000674757.1:c.3246G>T	ENSP00000502202.1:n.3246G>T
ENST00000674822.1:c.3125G>T	ENSP00000501552.1:n.3125G>T
ENST00000674846.1:c.3236G>T	ENSP00000502431.1:n.3236G>T
ENST00000674857.1:c.3230G>T	ENSP00000501687.1:n.3230G>T
ENST00000674960.1:c.3099G>T	ENSP00000501841.1:n.3099G>T
ENST00000674991.1:c.2491G>T	ENSP00000502004.1:p.Asp831Tyr
ENST00000675207.1:c.3337G>T	ENSP00000502644.1:p.Asp1113Tyr
ENST00000675329.1:c.3217G>T	ENSP00000502287.1:p.Asp1073Tyr
ENST00000675481.1:c.3241G>T	ENSP00000502723.1:p.Asp1081Tyr
ENST00000675583.1:c.3170G>T	ENSP00000501740.1:n.3170G>T
ENST00000675603.1:n.481G>T
ENST00000675638.1:c.3160G>T	ENSP00000501647.1:p.Asp1054Tyr
ENST00000675724.1:c.3179G>T	ENSP00000502576.1:n.3179G>T
ENST00000675771.1:c.2504G>T	ENSP00000502104.1:n.2504G>T
ENST00000675797.1:c.2646G>T	ENSP00000502023.1:n.2646G>T
ENST00000675809.1:c.3296G>T	ENSP00000502587.1:n.3296G>T
ENST00000675930.1:c.3233+8G>T	ENSP00000502456.1:n.3233+8G>T
ENST00000675980.1:c.3259G>T	ENSP00000502520.1:p.Asp1087Tyr
ENST00000676016.1:c.3140G>T	ENSP00000502412.1:n.3140G>T
ENST00000676366.1:c.3233+8G>T	ENSP00000501605.1:n.3233+8G>T
XM_005268004.3:c.3337G>T	XP_005268061.1:p.Asp1113Tyr
XM_005268004.4:c.3337G>T	XP_005268061.1:p.Asp1113Tyr
XM_005268005.3:c.3337G>T	XP_005268062.1:p.Asp1113Tyr
XM_005268005.4:c.3337G>T	XP_005268062.1:p.Asp1113Tyr
XM_017021595.1:c.3337G>T	XP_016877084.1:p.Asp1113Tyr
XR_943507.1:n.3466G>T