Canonical Allele Identifier: CA7373214

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104714411C>T , CM000676.2:g.104714411C>T	GRCh38
NC_000014.8:g.105180748C>T , CM000676.1:g.105180748C>T	GRCh37
NC_000014.7:g.104251793C>T	NCBI36
NG_027684.1:g.29806C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.3249C>T MANE Select	NP_071934.3:p.Ser1083=
ENST00000392634.9:c.3249C>T MANE Select	ENSP00000376410.4:p.Ser1083=
NM_001031714.3:c.3249C>T	NP_001026884.3:p.Ser1083=
NM_001031714.4:c.3249C>T	NP_001026884.3:p.Ser1083=
NM_022489.3:c.3249C>T	NP_071934.3:p.Ser1083=
ENST00000252527.8:c.1653C>T	ENSP00000252527.8:p.Ser551=
ENST00000330634.11:c.3249C>T	ENSP00000376406.3:p.Ser1083=
ENST00000392634.8:c.3249C>T	ENSP00000376410.4:p.Ser1083=
ENST00000617571.4:c.-885C>T	ENSP00000483829.1:n.-885C>T
ENST00000617571.5:c.3245C>T	ENSP00000483829.2:n.3245C>T
ENST00000674520.1:c.3244C>T	ENSP00000502593.1:n.3244C>T
ENST00000674631.1:c.1287C>T	ENSP00000502830.1:p.Ser429=
ENST00000674662.1:c.3253C>T	ENSP00000501895.1:n.3253C>T
ENST00000674757.1:c.3254C>T	ENSP00000502202.1:n.3254C>T
ENST00000674822.1:c.3133C>T	ENSP00000501552.1:n.3133C>T
ENST00000674846.1:c.3244C>T	ENSP00000502431.1:n.3244C>T
ENST00000674857.1:c.3238C>T	ENSP00000501687.1:n.3238C>T
ENST00000674960.1:c.3107C>T	ENSP00000501841.1:n.3107C>T
ENST00000674991.1:c.2499C>T	ENSP00000502004.1:p.Ser833=
ENST00000675207.1:c.3345C>T	ENSP00000502644.1:p.Ser1115=
ENST00000675329.1:c.3225C>T	ENSP00000502287.1:p.Ser1075=
ENST00000675481.1:c.3249C>T	ENSP00000502723.1:p.Ser1083=
ENST00000675583.1:c.3178C>T	ENSP00000501740.1:n.3178C>T
ENST00000675603.1:n.489C>T
ENST00000675638.1:c.3168C>T	ENSP00000501647.1:p.Ser1056=
ENST00000675724.1:c.3187C>T	ENSP00000502576.1:n.3187C>T
ENST00000675771.1:c.2512C>T	ENSP00000502104.1:n.2512C>T
ENST00000675797.1:c.2654C>T	ENSP00000502023.1:n.2654C>T
ENST00000675809.1:c.3304C>T	ENSP00000502587.1:n.3304C>T
ENST00000675930.1:c.3233+16C>T	ENSP00000502456.1:n.3233+16C>T
ENST00000675980.1:c.3267C>T	ENSP00000502520.1:p.Ser1089=
ENST00000676016.1:c.3148C>T	ENSP00000502412.1:n.3148C>T
ENST00000676366.1:c.3233+16C>T	ENSP00000501605.1:n.3233+16C>T
XM_005268004.3:c.3345C>T	XP_005268061.1:p.Ser1115=
XM_005268004.4:c.3345C>T	XP_005268061.1:p.Ser1115=
XM_005268005.3:c.3345C>T	XP_005268062.1:p.Ser1115=
XM_005268005.4:c.3345C>T	XP_005268062.1:p.Ser1115=
XM_017021595.1:c.3345C>T	XP_016877084.1:p.Ser1115=
XR_943507.1:n.3474C>T