Canonical Allele Identifier: CA7372946

Gene: INF2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104711699G>T , CM000676.2:g.104711699G>T	GRCh38
NC_000014.8:g.105178036G>T , CM000676.1:g.105178036G>T	GRCh37
NC_000014.7:g.104249081G>T	NCBI36
NG_027684.1:g.27094G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_022489.4:c.2489G>T MANE Select	NP_071934.3:p.Gly830Val
ENST00000392634.9:c.2489G>T MANE Select	ENSP00000376410.4:p.Gly830Val
NM_001031714.3:c.2489G>T	NP_001026884.3:p.Gly830Val
NM_001031714.4:c.2489G>T	NP_001026884.3:p.Gly830Val
NM_022489.3:c.2489G>T	NP_071934.3:p.Gly830Val
ENST00000252527.8:c.893G>T	ENSP00000252527.8:p.Gly298Val
ENST00000330634.11:c.2489G>T	ENSP00000376406.3:p.Gly830Val
ENST00000392634.8:c.2489G>T	ENSP00000376410.4:p.Gly830Val
ENST00000480763.2:n.354G>T
ENST00000617571.4:c.-1645G>T	ENSP00000483829.1:n.-1645G>T
ENST00000617571.5:c.2489G>T	ENSP00000483829.2:p.Gly830Val
ENST00000674520.1:c.2489G>T	ENSP00000502593.1:p.Gly830Val
ENST00000674631.1:c.527G>T	ENSP00000502830.1:p.Gly176Val
ENST00000674662.1:c.2493G>T	ENSP00000501895.1:n.2493G>T
ENST00000674757.1:c.2489G>T	ENSP00000502202.1:p.Gly830Val
ENST00000674822.1:c.2373G>T	ENSP00000501552.1:n.2373G>T
ENST00000674846.1:c.2484G>T	ENSP00000502431.1:n.2484G>T
ENST00000674857.1:c.2478G>T	ENSP00000501687.1:n.2478G>T
ENST00000674960.1:c.2347G>T	ENSP00000501841.1:n.2347G>T
ENST00000674991.1:c.1739G>T	ENSP00000502004.1:p.Gly580Val
ENST00000674994.1:c.2455G>T	ENSP00000502442.1:n.2455G>T
ENST00000675207.1:c.2585G>T	ENSP00000502644.1:p.Gly862Val
ENST00000675329.1:c.2465G>T	ENSP00000502287.1:p.Gly822Val
ENST00000675481.1:c.2489G>T	ENSP00000502723.1:p.Gly830Val
ENST00000675557.1:n.268G>T
ENST00000675583.1:c.2418G>T	ENSP00000501740.1:n.2418G>T
ENST00000675638.1:c.2489G>T	ENSP00000501647.1:p.Gly830Val
ENST00000675724.1:c.2427G>T	ENSP00000502576.1:n.2427G>T
ENST00000675771.1:c.1752G>T	ENSP00000502104.1:n.1752G>T
ENST00000675797.1:c.1894G>T	ENSP00000502023.1:n.1894G>T
ENST00000675809.1:c.2544G>T	ENSP00000502587.1:n.2544G>T
ENST00000675930.1:c.2489G>T	ENSP00000502456.1:p.Gly830Val
ENST00000675980.1:c.2507G>T	ENSP00000502520.1:p.Gly836Val
ENST00000676016.1:c.2388G>T	ENSP00000502412.1:n.2388G>T
ENST00000676366.1:c.2489G>T	ENSP00000501605.1:p.Gly830Val
XM_005268004.3:c.2585G>T	XP_005268061.1:p.Gly862Val
XM_005268004.4:c.2585G>T	XP_005268061.1:p.Gly862Val
XM_005268005.3:c.2585G>T	XP_005268062.1:p.Gly862Val
XM_005268005.4:c.2585G>T	XP_005268062.1:p.Gly862Val
XM_017021595.1:c.2585G>T	XP_016877084.1:p.Gly862Val
XR_943507.1:n.2714G>T